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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHA1_chr10_122369708_122437345 | 122429494 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0231a0002c0002t0001g0232 | 2 | 358 | 0.0056 | -10 | c.901 others(24): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLEKHA2_chr8_38896346_38978912 | 38899685 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01175.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0051a0001c0001t0001g0100a0001c0001t0001g0177others(24): Show | 27 | 376 | 0.0718 | -10 | c.-17 others(21): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1660 | chr8 | TogoVar | ||||||
PLEKHA3_chr2_178475457_178521463 | 178476654 | ACATGTTG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0170a0001c0001t0172others(1): Show | a0001c0001t0035g0133a0001c0001t0035g0135a0001c0001t0170g0093others(2): Show | 5 | 382 | 0.0131 | -10 | c.-42 others(21): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 3802 | chr2 | TogoVar | ||||||
PLEKHA3_chr2_178475457_178521463 | 178491654 | TGTGAAAA others(3): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 382 | 0.0026 | -10 | c.313 others(25): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
PLEKHA3_chr2_178475457_178521463 | 178507658 | GTTTTTTT others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18963.hp1 NA19058.hp2 |
a0001 | a0001c0002 | a0001c0002t0143a0001c0002t0144 | a0001c0002t0143g0027a0001c0002t0144g0016 | 2 | 382 | 0.0052 | -10 | c.*37 others(21): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 8/8 | 3798 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PLEKHA3_chr2_178475457_178521463 | 178518004 | ATACAATG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0069 | 1 | 382 | 0.0026 | -10 | c.*14 others(23): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 1542 | chr2 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48844161 | ATTATTAT others(3): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0261 | 1 | 300 | 0.0033 | -10 | c.174 others(29): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 16/19 | chr19 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19157097 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049 | 1 | 316 | 0.0032 | -10 | c.227 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19167405 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154others(9): Show | 12 | 316 | 0.0380 | -10 | c.227 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19173005 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0146 | 1 | 316 | 0.0032 | -10 | c.227 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19197676 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp1 others(33): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0237a0001c0001t0001g0240a0001c0001t0001g0241others(33): Show | 36 | 316 | 0.1139 | -10 | c.228 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19197724 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0150a0001c0001t0006g0151a0001c0001t0007g0305 | 3 | 316 | 0.0095 | -10 | c.228 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19290173 | CGCCTCCC others(3): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 1 | 316 | 0.0032 | -10 | c.186 others(27): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19305861 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0118 | 1 | 316 | 0.0032 | -10 | c.203 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19321355 | CTTTTCTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0229others(42): Show | 45 | 316 | 0.1424 | -10 | c.221 others(27): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 18/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19328558 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 316 | 0.0032 | -10 | c.244 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA18947.hp2 NA18949.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0168a0001c0001t0001g0256a0001c0001t0005g0001others(5): Show | 8 | 316 | 0.0253 | -10 | c.244 others(29): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19345418 | AAAATAAA others(3): Show |
A | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 | 1 | 316 | 0.0032 | -10 | c.266 others(27): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA6_chr1_204213853_204364929 | 204234952 | CTTTATAT others(3): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 270 | 0.0037 | -10 | c.241 others(29): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 17/22 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204234954 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(18): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0005others(1): Show | a0002c0002t0001a0002c0002t0024a0002c0002t0035others(6): Show | a0002c0002t0001g0139a0002c0002t0001g0193a0002c0002t0001g0215others(18): Show | 21 | 270 | 0.0778 | -10 | c.241 others(29): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 17/22 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204312841 | ATTTTCTT others(3): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02040.hp2 HG02055.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0030others(11): Show | a0001c0001t0003g0007a0001c0001t0003g0088a0001c0001t0003g0096others(20): Show | 23 | 270 | 0.0852 | -10 | c.-94 others(29): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16804904 | AGGGAGGT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0030 | a0001c0030t0003 | a0001c0030t0003g0026 | 1 | 244 | 0.0041 | -10 | c.200 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 13/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16824666 | CTACTGCA others(3): Show |
C | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 | 1 | 244 | 0.0041 | -10 | c.134 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 10/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16847080 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG02965.hp2 HG03669.hp1 others(3): Show |
a0001a0005 | a0001c0002a0001c0010a0005c0039 | a0001c0002t0001a0001c0002t0002a0001c0010t0004others(1): Show | a0001c0002t0001g0129a0001c0002t0002g0047a0001c0002t0002g0059others(3): Show | 6 | 244 | 0.0246 | -10 | c.696 others(27): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 8/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16884636 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(54): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0023a0001c0001t0001g0037a0001c0001t0001g0046others(54): Show | 57 | 244 | 0.2336 | -10 | c.222 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16889418 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0013 | a0001c0013t0005 | a0001c0013t0005g0066 | 1 | 244 | 0.0041 | -10 | c.222 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16892432 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0048 | 1 | 244 | 0.0041 | -10 | c.222 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16898928 | TCACTGAA others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 244 | 0.0041 | -10 | c.222 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16936401 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0006a0001c0001t0002g0123a0001c0001t0003g0001others(40): Show | 43 | 244 | 0.1762 | -10 | c.222 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16966290 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00735.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0037a0001c0001t0001g0067a0001c0001t0001g0088others(37): Show | 40 | 244 | 0.1639 | -10 | c.221 others(29): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30056278 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0192a0001c0002t0003g0193a0001c0002t0003g0194 | 3 | 234 | 0.0128 | -10 | c.103 others(27): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PLEKHA8_chr7_30023412_30089650 | 30056777 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 NA18942.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210a0001c0002t0002g0211a0001c0002t0002g0220others(1): Show | 4 | 234 | 0.0171 | -10 | c.103 others(29): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PLEKHA8_chr7_30023412_30089650 | 30056779 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 2 | 234 | 0.0086 | -10 | c.103 others(29): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PLEKHB2_chr2_131100336_131154845 | 131118867 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008a0001c0001t0005g0188a0001c0001t0005g0190others(1): Show | 5 | 264 | 0.0189 | -10 | c.-8- others(25): Show |
PLEKHB2 | ENSG00000115762.17 | transcript | ENST00000693505.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLEKHB2_chr2_131100336_131154845 | 131129324 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 264 | 0.0038 | -10 | c.294 others(27): Show |
PLEKHB2 | ENSG00000115762.17 | transcript | ENST00000693505.1 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69487182 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0002g0188others(2): Show | 6 | 318 | 0.0189 | -10 | c.149 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69489558 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0250 | 1 | 318 | 0.0031 | -10 | c.149 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69492376 | GGTCTTCA others(3): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 318 | 0.0031 | -10 | c.149 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | ATTTATTT others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02145.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0095a0001c0001t0001g0170others(10): Show | 13 | 318 | 0.0409 | -10 | c.150 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498588 | TTTCTCTT others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02683.hp2 HG02723.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0085a0001c0001t0001g0174others(5): Show | 8 | 318 | 0.0252 | -10 | c.150 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498653 | CTTCTCTT others(3): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0167a0001c0001t0003g0093a0001c0001t0003g0162others(6): Show | 9 | 318 | 0.0283 | -10 | c.150 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69499225 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(18): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0001g0177others(17): Show | 21 | 318 | 0.0660 | -10 | c.150 others(25): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69513244 | TAATAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02965.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0006a0001c0001t0006g0062a0001c0001t0006g0176others(1): Show | 5 | 318 | 0.0157 | -10 | c.556 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69520166 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 318 | 0.0031 | -10 | c.556 others(27): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHF2_chr8_95128785_95161685 | 95136331 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 384 | 0.0026 | -10 | c.-15 others(27): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLEKHF2_chr8_95128785_95161685 | 95158094 | GCACCTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 384 | 0.0026 | -10 | c.*33 others(21): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 1410 | chr8 | TogoVar | ||||||
PLEKHF2_chr8_95128785_95161685 | 95160540 | ATATGTGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 384 | 0.0026 | -10 | c.*57 others(21): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 3856 | chr8 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150674628 | CCTCCCTC others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0182 | 1 | 272 | 0.0037 | -10 | c.-99 others(29): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150674674 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 NA20129.hp1 |
a0001a0010 | a0001c0002a0001c0026a0010c0034 | a0001c0002t0001a0001c0026t0001a0010c0034t0023 | a0001c0002t0001g0212a0001c0026t0001g0213a0010c0034t0023g0272 | 3 | 272 | 0.0110 | -10 | c.-99 others(29): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150678063 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA18942.hp1 NA18962.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0010t0001others(1): Show | a0001c0001t0002g0069a0001c0001t0002g0171a0001c0001t0002g0222others(4): Show | 7 | 272 | 0.0257 | -10 | c.-99 others(29): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |