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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PJA2_chr5_109329722_109414974 | 109337507 | ATTTTAAT others(35): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 344 | 0.0029 | -42 | c.200 others(59): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945279 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | NA18973.hp1 NA18994.hp2 NA19057.hp2 |
a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0165 a0005c0003t0001g0195 a0005c0003t0001g0230 |
3 | 304 | 0.0099 | -42 | c.371 others(61): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314997 | AGGAAGGA others(35): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG02027.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0103 others(5): Show |
8 | 270 | 0.0296 | -42 | c.349 others(61): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52051812 | GTCACCAA others(35): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01071.hp2 others(32): Show |
a0003a0004a0005others(6): Show | a0003c0007a0003c0012a0003c0013others(22): Show | a0003c0007t0001a0003c0012t0001a0003c0013t0001others(25): Show | a0003c0007t0001g0037 a0003c0007t0001g0042 a0003c0007t0001g0048 others(32): Show |
35 | 132 | 0.2652 | -42 | c.214 others(61): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 21/66 | chr6 | TogoVar | |||||||
PKM_chr15_72194029_72236190 | 72209399 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 368 | 0.0027 | -42 | c.565 others(57): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
PKM_chr15_72194029_72236190 | 72209417 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(51): Show |
89 | 368 | 0.2418 | -42 | c.565 others(57): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
PLA2G4E_chr15_41976582_42026042 | 41987928 | GGGGCCGC others(35): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 |
a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0379 a0006c0020t0001g0380 |
2 | 420 | 0.0048 | -42 | c.174 others(58): Show |
PLA2G4E | ENSG00000188089.14 | transcript | ENST00000696112.1 | protein_coding | 16/19 | chr15 | TogoVar | |||||||
PLA2G7_chr6_46699201_46740375 | 46734415 | TGAGAGAG others(35): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 9 | 0.1111 | -42 | c.-35 others(57): Show |
PLA2G7 | ENSG00000146070.17 | transcript | ENST00000274793.12 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63572958 | TTGTGTGT others(35): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0168 a0001c0001t0001g0194 a0001c0001t0001g0301 others(7): Show |
10 | 63 | 0.1587 | -42 | c.*19 others(53): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 1503 | chr11 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8821494 | AAAATATG others(35): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02647.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0014a0001c0008t0012a0001c0011t0003others(2): Show | a0001c0001t0014g0007 a0001c0008t0012g0102 a0001c0011t0003g0052 others(2): Show |
5 | 50 | 0.1000 | -42 | c.342 others(63): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155653118 | GATAGATA others(35): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 16 | 0.0625 | -42 | c.79+ others(59): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
PLCH2_chr1_2471289_2510532 | 2478341 | GGTGAGGA others(35): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0123 | 1 | 382 | 0.0026 | -42 | c.125 others(55): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2478385 | TGAGGAGT others(35): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 382 | 0.0026 | -42 | c.125 others(55): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2485546 | TGCCTCAG others(35): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 382 | 0.0026 | -42 | c.816 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2503245 | ACCTCCTG others(35): Show |
A | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 382 | 0.0026 | -42 | c.296 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171682124 | GAAAGAAA others(35): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0062 | 1 | 292 | 0.0034 | -42 | c.186 others(61): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 16/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764899 | GGAAGGAA others(35): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03195.hp1 |
a0001a0009 | a0001c0005a0009c0013 | a0001c0005t0010a0009c0013t0012 | a0001c0005t0010g0116 a0009c0013t0012g0283 |
2 | 284 | 0.0070 | -42 | c.-31 others(61): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242387619 | TATTTTAT others(35): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0080 others(16): Show |
19 | 95 | 0.2000 | -42 | c.190 others(61): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEKHA6_chr1_204213853_204364929 | 204234954 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02976.hp2 others(2): Show |
a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0191 a0004c0007t0010g0197 a0004c0007t0010g0198 others(2): Show |
5 | 18 | 0.2778 | -42 | c.241 others(61): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 17/22 | chr1 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30056305 | TCTCTCTC others(35): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02165.hp1 NA18991.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016 | a0001c0002t0003g0012 a0001c0002t0003g0167 a0001c0002t0003g0169 others(2): Show |
6 | 232 | 0.0259 | -42 | c.103 others(60): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5435963 | CTCTGTGC others(35): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 412 | 0.0024 | -42 | c.-7+ others(55): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
PLIN4_chr19_4497192_4523486 | 4516480 | CAGCAGCC others(35): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 |
a0018 | a0018c0038 | a0018c0038t0013 | a0018c0038t0013g0265 a0018c0038t0013g0266 |
2 | 410 | 0.0049 | -42 | c.258 others(56): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
PLS3_chrX_115556174_115655861 | 115630820 | AATACATG others(35): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 251 | 0.0080 | -42 | c.500 others(57): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19973304 | ATATACTC others(35): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG03669.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0068a0001c0001t0071a0002c0002t0002others(7): Show | a0001c0001t0068g0173 a0001c0001t0071g0074 a0002c0002t0002g0165 others(8): Show |
11 | 178 | 0.0618 | -42 | c.113 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044205 | CTCTCTGT others(35): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0029others(1): Show | a0001c0001t0001g0009 a0001c0001t0010g0131 a0001c0001t0029g0002 others(1): Show |
4 | 133 | 0.0301 | -42 | c.325 others(59): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126401 | ATGTATAT others(35): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0082 | a0003c0003t0082g0145 | 1 | 177 | 0.0056 | -42 | c.542 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132188973 | GGAAAGGA others(35): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0005 | a0001c0001t0013g0033 a0001c0002t0005g0070 |
2 | 71 | 0.0282 | -42 | c.285 others(61): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8850466 | GGAGGGAG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0261 | 1 | 406 | 0.0025 | -42 | c.*26 others(53): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1142 | chr16 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189842962 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02451.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | 193 | 0.0933 | -42 | c.583 others(57): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137503576 | AGGAGAAG others(35): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0065 |
2 | 186 | 0.0108 | -42 | c.147 others(61): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
POLR2J_chr7_102468128_102483922 | 102476987 | ATGCCTGG others(35): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 408 | 0.0025 | -42 | c.54- others(55): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613608 | CGGGGATG others(35): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG03540.hp2 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0256 a0007c0010t0002g0257 a0007c0010t0002g0258 |
3 | 361 | 0.0083 | -42 | c.*36 others(53): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3612 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613620 | TGGGGATG others(35): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0007 | 1 | 400 | 0.0025 | -42 | c.*36 others(53): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3600 | chr19 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111264532 | GAAAGAAA others(35): Show |
G | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 378 | 0.0026 | -42 | c.120 others(59): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0008a0001c0002t0019a0002c0008t0006others(1): Show | a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 others(5): Show |
8 | 14 | 0.5714 | -42 | c.148 others(61): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPM1D_chr17_60595193_60671280 | 60645530 | ATATGTGT others(35): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 211 | 0.0047 | -42 | c.827 others(59): Show |
PPM1D | ENSG00000170836.13 | transcript | ENST00000305921.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706452 | CACACACA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 419 | 0.0048 | -42 | c.*36 others(53): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3545 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706454 | CACACACA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(77): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0001a0001c0009t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
80 | 300 | 0.2667 | -42 | c.*36 others(53): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3543 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706456 | CACACACA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
2 | 405 | 0.0049 | -42 | c.*36 others(53): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3541 | chr1 | TogoVar | |||||||
PPP1R12C_chr19_55085918_55122637 | 55097073 | TCACCACC others(35): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 388 | 0.0026 | -42 | c.952 others(57): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP1R16A_chr8_144472982_144507121 | 144505490 | GTGCGTTC others(35): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0156 a0001c0001t0003g0210 a0001c0001t0010g0061 others(2): Show |
5 | 353 | 0.0142 | -42 | c.*35 others(53): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 3370 | chr8 | TogoVar | |||||||
PPP1R16A_chr8_144472982_144507121 | 144505532 | TTGCGTTC others(35): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp2 HG04228.hp1 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0082 others(1): Show |
5 | 343 | 0.0146 | -42 | c.*36 others(53): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 3412 | chr8 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(35): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01993.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0034 others(9): Show |
12 | 70 | 0.1714 | -42 | c.135 others(59): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55261533 | GGTCAGGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 376 | 0.0027 | -42 | c.-31 others(53): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 2517 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50339220 | GTGTGTGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0009 | a0009c0030 | a0009c0030t0022 | a0009c0030t0022g0038 | 1 | 338 | 0.0030 | -42 | c.-44 others(53): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4106 | chr22 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50340459 | GGTATGTG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0032 | a0014c0032t0003 | a0014c0032t0003g0283 | 1 | 338 | 0.0030 | -42 | c.-32 others(53): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2867 | chr22 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41805778 | CACCAACA others(35): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141 | 1 | 404 | 0.0025 | -42 | c.265 others(61): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41805789 | CCACCACC others(35): Show |
C | intron_variant | MODIFIER | HG04199.hp1 NA18966.hp2 NA19081.hp2 |
a0002 | a0002c0015a0002c0024 | a0002c0015t0005a0002c0024t0005 | a0002c0015t0005g0184 a0002c0015t0005g0303 a0002c0024t0005g0067 |
3 | 403 | 0.0074 | -42 | c.265 others(61): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806370 | CTACCACC others(35): Show |
C | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0334 | 1 | 400 | 0.0025 | -42 | c.265 others(61): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3194599 | ACCACACG others(35): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0088 a0001c0001t0021g0089 |
2 | 205 | 0.0098 | -42 | c.387 others(59): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |