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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGR_chr1_206923522_206951466 | 206948169 | T | TCTTGCTT others(26): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0006 | 1 | 400 | 0.0025 | 33 | c.-18 others(44): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 1704 | chr1 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631785 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 249 | 0.0040 | 33 | c.529 others(50): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG02970.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0028 |
3 | 93 | 0.0323 | 33 | c.*18 others(42): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 91 | 0.0110 | 33 | c.*18 others(42): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 91 | 0.0110 | 33 | c.*18 others(42): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18952.hp2 NA18956.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0026 |
4 | 94 | 0.0426 | 33 | c.*18 others(42): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAT others(26): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 92 | 0.0217 | 33 | c.*18 others(42): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96615485 | A | AGAAATGA others(26): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 254 | 0.0039 | 33 | c.201 others(52): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PINX1_chr8_10759961_10844875 | 10833778 | T | TGGGGTGC others(26): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 352 | 0.0028 | 33 | c.130 others(48): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03486.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0002g0212 a0001c0001t0002g0220 |
3 | 30 | 0.1000 | 33 | c.120 others(52): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637164 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 154 | 0.0065 | 33 | c.321 others(52): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTCTT others(26): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0058 | 1 | 58 | 0.0172 | 33 | c.49- others(50): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631655 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 | 1 | 74 | 0.0135 | 33 | c.367 others(48): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0123 a0001c0001t0002g0207 a0001c0001t0014g0218 others(1): Show |
4 | 46 | 0.0870 | 33 | c.683 others(50): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6561167 | C | CCTTCTCC others(26): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0043 | a0001c0007t0043g0147 | 1 | 209 | 0.0048 | 33 | c.-47 others(44): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4613 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(26): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 168 | 0.0060 | 33 | c.-49 others(44): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02165.hp2 HG03098.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0005c0007t0001 | a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0001g0268 others(2): Show |
5 | 11 | 0.4545 | 33 | c.-18 others(44): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0290 a0002c0002t0001g0338 |
2 | 27 | 0.0741 | 33 | c.128 others(52): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321755 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0275 | 1 | 300 | 0.0033 | 33 | c.349 others(50): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109357595 | G | GAAATAAG others(26): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0231 | 1 | 280 | 0.0036 | 33 | c.-49 others(44): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4865 | chr8 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0033 | a0033c0084 | a0033c0084t0006 | a0033c0084t0006g0087 | 1 | 42 | 0.0238 | 33 | c.590 others(52): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | |||||||
PKIG_chr20_44577579_44624037 | 44623665 | C | CTTTCCTT others(26): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 2 | 298 | 0.0067 | 33 | c.*53 others(44): Show |
PKIG | ENSG00000168734.14 | transcript | ENST00000372886.6 | protein_coding | 4629 | chr20 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14465399 | C | CTCTTTTT others(26): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG01261.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0100 a0003c0005t0001g0179 a0003c0005t0001g0183 others(4): Show |
7 | 231 | 0.0303 | 33 | c.173 others(52): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0188 | 1 | 237 | 0.0042 | 33 | c.137 others(52): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32858095 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18993.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0004g0041 |
3 | 339 | 0.0088 | 33 | c.117 others(52): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 400887 | C | CGCCCCGC others(26): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 144 | 0.0069 | 33 | c.173 others(50): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 403015 | C | CCCCCGGA others(26): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0166 | 1 | 148 | 0.0068 | 33 | c.173 others(48): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G12A_chr4_109704989_109735070 | 109730174 | G | GGGGGGGG others(26): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 410 | 0.0024 | 33 | c.-36 others(42): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 105 | chr4 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105933 | C | CCTTTCTT others(26): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0014 | a0014c0064 | a0014c0064t0022 | a0014c0064t0022g0186 | 1 | 255 | 0.0039 | 33 | c.9-4 others(44): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G7_chr6_46699201_46740375 | 46739384 | A | AAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0047 | 1 | 390 | 0.0026 | 33 | c.-42 others(44): Show |
PLA2G7 | ENSG00000146070.17 | transcript | ENST00000274793.12 | protein_coding | 4010 | chr6 | TogoVar | |||||||
PLAGL1_chr6_143935300_144013259 | 143943031 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 10 | 0.1000 | 33 | c.153 others(48): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0073 | 1 | 35 | 0.0286 | 33 | c.114 others(52): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLBD2_chr12_113353587_113396629 | 113366411 | C | CACAAAAC others(26): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01496.hp2 HG02040.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0025 a0001c0001t0003g0002 a0001c0001t0003g0024 others(13): Show |
25 | 276 | 0.0906 | 33 | c.291 others(50): Show |
PLBD2 | ENSG00000151176.8 | transcript | ENST00000280800.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8661945 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 |
a0001a0003 | a0001c0005a0003c0015 | a0001c0005t0011a0003c0015t0008 | a0001c0005t0011g0068 a0003c0015t0008g0002 |
2 | 86 | 0.0233 | 33 | c.862 others(50): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155739519 | T | TGGAACCA others(26): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 262 | 0.0038 | 33 | c.-41 others(50): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 287656 | T | TTATATAT others(26): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0121 | 1 | 174 | 0.0057 | 33 | c.128 others(50): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242241910 | T | TATACACT others(26): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0179 | 1 | 155 | 0.0065 | 33 | c.608 others(52): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19058.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0097 a0001c0001t0005g0076 a0001c0001t0005g0125 |
3 | 69 | 0.0435 | 33 | c.228 others(48): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0218 | 1 | 109 | 0.0092 | 33 | c.244 others(52): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0093 | 1 | 192 | 0.0052 | 33 | c.781 others(48): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG7_chr12_92697989_92777455 | 92737749 | G | GAGGAAGG others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(73): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(65): Show |
76 | 208 | 0.3654 | 33 | c.939 others(48): 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(26): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 156 | 0.0064 | 33 | c.-81 others(42): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | |||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0239 | 1 | 156 | 0.0064 | 33 | c.-81 others(42): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | |||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02615.hp1 NA18978.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0224 a0001c0002t0002g0130 a0001c0002t0002g0228 others(1): Show |
4 | 159 | 0.0252 | 33 | c.-81 others(42): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | |||||||
PLEKHH2_chr2_43632260_43772987 | 43636569 | T | TATATATA others(26): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0186 | 1 | 214 | 0.0047 | 33 | c.-81 others(42): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 690 | chr2 | TogoVar | |||||||
PLEKHM2_chr1_15679320_15739769 | 15686648 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0026 | 1 | 226 | 0.0044 | 33 | c.60+ others(48): Show |
PLEKHM2 | ENSG00000116786.13 | transcript | ENST00000375799.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 97 | 0.0103 | 33 | c.195 others(52): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0089 | 1 | 97 | 0.0103 | 33 | c.195 others(52): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
PLEKHM3_chr2_207816288_208030527 | 208022674 | G | GTCCTTCC others(26): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0092 | 1 | 198 | 0.0051 | 33 | c.-31 others(52): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976970 | G | GCCAACCC others(26): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0148 | 1 | 338 | 0.0030 | 33 | c.*23 others(44): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1106 | chr1 | TogoVar |