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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCXD1_chrX_276381_308356 | 297161 | CCATTATT others(42): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0096 | 1 | 88 | 0.0114 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297266 | TCTGTCTA others(42): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02896.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0021others(3): Show | a0001c0001t0002g0051 a0001c0001t0012g0134 a0001c0001t0021g0108 others(4): Show |
7 | 174 | 0.0402 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297323 | TCACATGG others(42): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02155.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0001t0086a0001c0002t0002 | a0001c0001t0044g0024 a0001c0001t0086g0088 a0001c0002t0002g0143 others(1): Show |
4 | 171 | 0.0234 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297457 | ATTATTCT others(42): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0103 | 1 | 173 | 0.0058 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297568 | TCACATGG others(42): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02976.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0012a0001c0001t0021others(2): Show | a0001c0001t0005g0098 a0001c0001t0012g0134 a0001c0001t0021g0108 others(3): Show |
6 | 160 | 0.0375 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297702 | ATTATTCT others(42): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0057 a0001c0001t0001g0163 a0001c0001t0005g0035 others(12): Show |
15 | 174 | 0.0862 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297798 | CCATTATT others(42): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02976.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0021a0001c0001t0043others(1): Show | a0001c0001t0012g0134 a0001c0001t0021g0108 a0001c0001t0043g0012 others(2): Show |
5 | 113 | 0.0442 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297960 | TCACATGG others(42): Show |
T | intron_variant | MODIFIER | HG02647.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0071 | a0001c0001t0012g0133 a0001c0001t0071g0168 |
2 | 167 | 0.0120 | -49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298009 | CCACATGG others(42): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0081 | a0001c0001t0076g0092 a0001c0001t0081g0061 |
2 | 153 | 0.0131 | -49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298156 | TCACATGG others(42): Show |
T | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0103 | 1 | 126 | 0.0079 | -49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298288 | ACATTATT others(42): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0071 | a0001c0001t0061g0166 a0001c0001t0071g0168 |
2 | 123 | 0.0163 | -49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298687 | TCTGTCTA others(42): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(77): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(51): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 others(76): Show |
80 | 173 | 0.4624 | -49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLD3_chr19_40343695_40383485 | 40380213 | TGGGTGAG others(42): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0002 | a0001c0001t0002g0222 a0001c0001t0002g0233 a0001c0001t0002g0238 others(4): Show |
7 | 362 | 0.0193 | -49 | c.*20 others(60): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 1729 | chr19 | TogoVar | |||||||
PLEKHH2_chr2_43632260_43772987 | 43677901 | GGACGGGG others(42): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(103): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(38): Show | a0001c0001t0001g0048 a0001c0001t0001g0109 a0001c0001t0001g0112 others(103): Show |
106 | 254 | 0.4173 | -49 | c.124 others(64): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLEKHM1_chr17_45430900_45495721 | 45444876 | AGATGGAG others(42): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0058 | 1 | 324 | 0.0031 | -49 | c.283 others(66): Show |
PLEKHM1 | ENSG00000225190.12 | transcript | ENST00000430334.8 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PLIN5_chr19_4517531_4540224 | 4525907 | CGGGGACA others(42): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 410 | 0.0024 | -49 | c.521 others(63): Show |
PLIN5 | ENSG00000214456.8 | transcript | ENST00000381848.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
PNMA6A_chrX_153067454_153080019 | 153079636 | ATCACGGA others(42): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 84 | 0.0119 | -49 | c.*53 others(60): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 4618 | chrX | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137514316 | CTGTTGAG others(42): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071 a0001c0002t0001g0090 |
2 | 186 | 0.0108 | -49 | c.122 others(68): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45268792 | ACCCCGTC others(42): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0155 | 1 | 430 | 0.0023 | -49 | c.101 others(67): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45268831 | CCGGCCAG others(42): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(154): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 others(96): Show |
157 | 434 | 0.3618 | -49 | c.101 others(67): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24709039 | AGACGGGG others(42): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 194 | 0.0052 | -49 | c.346 others(66): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24709367 | AGCACGGC others(42): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 195 | 0.0051 | -49 | c.346 others(66): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLH_chr6_43571185_43625523 | 43580505 | ACCTCCCG others(42): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0091 | 1 | 258 | 0.0039 | -49 | c.-4- others(64): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75952073 | GGCTGGCC others(42): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02145.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0002c0001 | a0001c0004t0001a0001c0005t0001a0002c0001t0002 | a0001c0004t0001g0141 a0001c0005t0001g0065 a0001c0005t0001g0081 others(1): Show |
4 | 272 | 0.0147 | -49 | c.-13 others(66): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75952171 | AGCTGGCC others(42): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 134 | 0.0075 | -49 | c.-13 others(66): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988856 | GTGTGGAG others(42): Show |
G | downstream_gene_variant | MODIFIER | HG03516.hp1 HG04115.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0144 a0001c0003t0001g0038 |
2 | 275 | 0.0073 | -49 | c.*23 others(60): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2002 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988873 | GGGTGGGT others(42): Show |
G | downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 276 | 0.0036 | -49 | c.*23 others(60): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2019 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988902 | GGGTGTGT others(42): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 271 | 0.0037 | -49 | c.*24 others(60): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2048 | chr7 | TogoVar | |||||||
POU2AF1_chr11_111347255_111384275 | 111370660 | TTGGTTTG others(42): Show |
T | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 382 | 0.0026 | -49 | c.16+ others(64): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
PPARD_chr6_35337558_35433178 | 35340660 | GCCCGGCC others(42): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0064 others(58): Show |
62 | 236 | 0.2627 | -49 | c.-22 others(60): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 1897 | chr6 | TogoVar | |||||||
PPARD_chr6_35337558_35433178 | 35383977 | CGGGAGGG others(42): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 236 | 0.0042 | -49 | c.-10 others(70): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35384407 | AGGCCAGC others(42): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 others(2): Show |
5 | 236 | 0.0212 | -49 | c.-10 others(70): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35384631 | CGGCCAGC others(42): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 236 | 0.0042 | -49 | c.-10 others(70): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35384933 | AGGCCAGC others(42): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0068 a0001c0002t0003g0079 a0001c0002t0003g0081 |
3 | 234 | 0.0128 | -49 | c.-10 others(70): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809126 | GATAGATA others(42): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01109.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0069 a0001c0001t0001g0155 a0001c0001t0001g0186 others(34): Show |
37 | 313 | 0.1182 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809183 | GATAGATA others(42): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0067 others(44): Show |
47 | 318 | 0.1478 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809240 | GATAGATA others(42): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0006 | a0001c0001t0003g0087 a0001c0017t0006g0078 |
2 | 318 | 0.0063 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809340 | CCATCTCT others(42): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 317 | 0.0032 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809354 | GATAGATA others(42): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0198 | 1 | 316 | 0.0032 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809440 | CATAGATA others(42): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0001c0030others(3): Show | a0001c0001t0002a0001c0009t0064a0001c0030t0031others(4): Show | a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 others(15): Show |
18 | 287 | 0.0627 | -49 | c.79- others(66): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70295179 | GGGGGCTG others(42): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01074.hp1 others(68): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0011others(9): Show | a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 others(68): Show |
71 | 280 | 0.2536 | -49 | c.264 others(68): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPIAL4A_chr1_120884771_120895530 | 120889437 | AAAAAAGA others(42): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 NA18612.hp2 NA18956.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 14 | 278 | 0.0504 | -49 | c.-38 others(58): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 333 | chr1 | TogoVar | |||||||
PPIAL4C_chr1_149578848_149589607 | 149583478 | GAAAGAAA others(42): Show |
G | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 446 | 0.0022 | -49 | c.-41 others(58): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 369 | chr1 | TogoVar | |||||||
PPM1B_chr2_44163875_44236472 | 44193384 | CCTCTGAA others(42): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 356 | 0.0028 | -49 | c.-14 others(66): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706422 | TCTCTCTC others(42): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -49 | c.*36 others(60): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3575 | chr1 | TogoVar | |||||||
PPP1R8_chr1_27825782_27856676 | 27853234 | GGGAGGGA others(42): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | -49 | c.*27 others(60): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1559 | chr1 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6353759 | AACACCGA others(42): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(162): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0013 others(162): Show |
165 | 293 | 0.5631 | -49 | c.626 others(66): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212298882 | ACCCCCCA others(42): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 382 | 0.0026 | -49 | c.181 others(68): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212320647 | GCCTCCCT others(42): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(62): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0018 others(57): Show |
65 | 382 | 0.1702 | -49 | c.182 others(66): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101099659 | TTCCACGA others(42): Show |
T | frameshift_variant | HIGH | HG01168.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0161 | 1 | 190 | 0.0053 | -49 | c.399 others(56): Show |
p.Trp others(5): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 4/14 | 1177/4743 | 399/1566 | 133/521 | chr4 | TogoVar |