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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKP3_chr11_389209_409908 | 401810 | C | CCCGCTCA | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02074.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0028 a0001c0002t0001g0004 a0001c0002t0001g0103 others(13): Show |
17 | 214 | 0.0794 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401812 | C | CGCTCACA | intron_variant | MODIFIER | HG01943.hp2 HG02129.hp1 HG02622.hp1 others(3): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0016 a0001c0002t0001g0169 a0001c0003t0001g0151 others(3): Show |
6 | 208 | 0.0288 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401880 | C | CCCGCTCA | intron_variant | MODIFIER | HG01496.hp1 HG01981.hp1 HG02004.hp2 others(18): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0046 a0001c0002t0001g0104 a0001c0002t0001g0125 others(18): Show |
21 | 212 | 0.0991 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401882 | C | CGCTCACA | intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0044 others(3): Show |
6 | 201 | 0.0299 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401950 | C | CCCGCTCA | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0003others(1): Show | a0001c0002t0001g0125 a0001c0002t0001g0170 a0001c0002t0001g0171 others(4): Show |
7 | 189 | 0.0370 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401973 | C | CCCGCTCA | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0006 | a0001c0002a0001c0010a0001c0030others(2): Show | a0001c0002t0001a0001c0010t0003a0001c0030t0001others(2): Show | a0001c0002t0001g0125 a0001c0002t0001g0170 a0001c0002t0001g0171 others(6): Show |
9 | 212 | 0.0425 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401975 | C | CGCTCACA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01256.hp1 others(20): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(3): Show | a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0126 others(20): Show |
23 | 209 | 0.1100 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402043 | C | CCCGCTCA | intron_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG02004.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0076 others(4): Show |
7 | 210 | 0.0333 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402045 | C | CGCTCACA | intron_variant | MODIFIER | HG01496.hp1 HG02897.hp2 |
a0001a0006 | a0001c0002a0006c0031 | a0001c0002t0001a0006c0031t0001 | a0001c0002t0001g0172 a0006c0031t0001g0163 |
2 | 192 | 0.0104 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402184 | C | CGCTCACA | intron_variant | MODIFIER | HG02976.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0046 |
2 | 209 | 0.0096 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402235 | A | ACCCCCGG | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG01261.hp1 others(16): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0110 a0001c0002t0001g0118 a0001c0002t0001g0125 others(16): Show |
19 | 139 | 0.1367 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402252 | C | CCCGCTCA | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG02258.hp1 others(6): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0002t0001g0118 others(6): Show |
9 | 213 | 0.0423 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402266 | C | CACCCCCG | intron_variant | MODIFIER | NA19043.hp1 NA20300.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0073 a0001c0007t0001g0007 |
2 | 212 | 0.0094 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402305 | A | ACCCCCGG | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001a0014 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 others(4): Show |
7 | 201 | 0.0348 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402322 | C | CCCGCTCA | intron_variant | MODIFIER | HG02148.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0081 others(4): Show |
7 | 211 | 0.0332 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402324 | C | CGCTCACA | intron_variant | MODIFIER | HG02129.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0089 |
2 | 214 | 0.0093 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402396 | G | GGACCCCC | intron_variant | MODIFIER | HG02258.hp1 NA18966.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0056 a0001c0005t0001g0023 a0001c0005t0001g0032 |
3 | 76 | 0.0395 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402398 | A | ACCCCCGG | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp1 others(15): Show |
a0001a0007a0014 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0110 a0001c0002t0001g0132 a0001c0002t0001g0145 others(14): Show |
18 | 78 | 0.2308 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402415 | C | CCCGCTCA | intron_variant | MODIFIER | HG02129.hp1 HG02723.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0081 others(2): Show |
5 | 212 | 0.0236 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402735 | C | CACCCCCG | intron_variant | MODIFIER | HG01358.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0103 a0001c0003t0001g0115 |
2 | 214 | 0.0093 | 7 | c.173 others(24): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP4_chr2_158451952_158686429 | 158684748 | C | CCGTGGGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(210): Show |
216 | 305 | 0.7082 | 7 | c.*40 others(18): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 3320 | chr2 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109705999 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0038 | a0001c0001t0003g0014 a0001c0002t0002g0002 a0001c0002t0002g0139 others(1): Show |
4 | 294 | 0.0136 | 7 | c.*83 others(18): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 3989 | chr4 | TogoVar | |||||||
PLA2G4A_chr1_186823949_186993981 | 186837736 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01070.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0040 others(30): Show |
33 | 158 | 0.2089 | 7 | c.-70 others(24): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48057480 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG02809.hp1 others(2): Show |
a0002a0004a0005others(1): Show | a0002c0021a0004c0007a0005c0014others(1): Show | a0002c0021t0007a0004c0007t0003a0005c0014t0014others(1): Show | a0002c0021t0007g0288 a0004c0007t0003g0130 a0004c0007t0003g0131 others(2): Show |
5 | 90 | 0.0556 | 7 | c.125 others(26): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48097251 | C | CTTCTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02280.hp1 others(4): Show |
a0004a0005a0030 | a0004c0007a0005c0012a0005c0041others(1): Show | a0004c0007t0003a0005c0012t0009a0005c0012t0012others(2): Show | a0004c0007t0003g0129 a0004c0007t0003g0130 a0005c0012t0009g0261 others(4): Show |
7 | 132 | 0.0530 | 7 | c.568 others(22): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 6/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48101674 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01891.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0047a0002c0004a0002c0021others(7): Show | a0001c0047t0006a0002c0004t0006a0002c0004t0007others(11): Show | a0001c0047t0006g0298 a0002c0004t0006g0292 a0002c0004t0007g0295 others(13): Show |
16 | 180 | 0.0889 | 7 | c.258 others(24): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105820 | C | CCCTCCCT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(60): Show |
a0004a0005a0009others(7): Show | a0004c0002a0004c0007a0004c0024others(15): Show | a0004c0002t0001a0004c0002t0003a0004c0002t0008others(29): Show | a0004c0002t0001g0022 a0004c0002t0001g0023 a0004c0002t0003g0151 others(59): Show |
63 | 305 | 0.2066 | 7 | c.9-3 others(18): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4E_chr15_41976582_42026042 | 41996350 | G | GAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp2 HG02129.hp2 others(21): Show |
a0001a0002a0008 | a0001c0005a0001c0006a0001c0007others(2): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0002others(3): Show | a0001c0005t0001g0063 a0001c0005t0001g0094 a0001c0005t0001g0102 others(20): Show |
24 | 43 | 0.5581 | 7 | c.102 others(24): Show |
PLA2G4E | ENSG00000188089.14 | transcript | ENST00000696112.1 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PLA2G4E_chr15_41976582_42026042 | 42010142 | C | CCCCCCCG | intron_variant | MODIFIER | HG00438.hp1 HG01346.hp2 HG02056.hp2 others(21): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0310 a0001c0001t0001g0356 others(19): Show |
24 | 380 | 0.0632 | 7 | c.170 others(24): Show |
PLA2G4E | ENSG00000188089.14 | transcript | ENST00000696112.1 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PLA2R1_chr2_159927006_160067615 | 159929486 | A | AAAAATAT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(70): Show |
a0001a0003a0016others(1): Show | a0001c0001a0001c0003a0003c0004others(4): Show | a0001c0001t0010a0001c0001t0017a0001c0001t0024others(50): Show | a0001c0001t0010g0011 a0001c0001t0010g0112 a0001c0001t0010g0226 others(64): Show |
73 | 324 | 0.2253 | 7 | c.*12 others(20): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 2519 | chr2 | TogoVar | |||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(11): Show |
a0001a0003a0009 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0011a0001c0001t0019a0001c0001t0129others(3): Show | a0001c0001t0011g0174 a0001c0001t0011g0187 a0001c0001t0011g0198 others(10): Show |
14 | 38 | 0.3684 | 7 | c.*58 others(18): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | ||||||
PLAAT2_chr11_63547770_63568379 | 63554164 | C | CGGGGTGG | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03041.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0077 others(1): Show |
4 | 376 | 0.0106 | 7 | c.388 others(24): Show |
PLAAT2 | ENSG00000133328.4 | transcript | ENST00000255695.2 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
PLAA_chr9_26898372_26952242 | 26948448 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01515.hp1 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0133 others(2): Show |
6 | 58 | 0.1034 | 7 | c.-14 others(18): Show |
PLAA | ENSG00000137055.15 | transcript | ENST00000397292.8 | protein_coding | 1207 | chr9 | TogoVar | |||||||
PLAGL1_chr6_143935300_144013259 | 143987437 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01123.hp2 others(32): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0073 others(31): Show |
35 | 115 | 0.3043 | 7 | c.-58 others(26): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42194050 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0111 others(18): Show |
22 | 87 | 0.2529 | 7 | c.-26 others(22): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43659167 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(247): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(224): Show |
250 | 253 | 0.9881 | 7 | c.311 others(24): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
PLAU_chr10_73906132_73922494 | 73918182 | A | AGAAGAAG | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0002g0003 others(1): Show |
8 | 180 | 0.0444 | 7 | c.*16 others(18): Show |
PLAU | ENSG00000122861.16 | transcript | ENST00000372764.4 | protein_coding | 689 | chr10 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28541185 | T | TAAATAAA | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02132.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0003others(4): Show | a0001c0002t0001a0002c0001t0002a0003c0003t0001others(4): Show | a0001c0002t0001g0035 a0002c0001t0002g0163 a0002c0001t0002g0224 others(8): Show |
11 | 44 | 0.2500 | 7 | c.775 others(22): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 12/57 | chr2 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28549412 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0013a0001c0019others(25): Show | a0001c0002t0001a0001c0013t0002a0001c0013t0010others(28): Show | a0001c0002t0001g0019 a0001c0002t0001g0098 a0001c0002t0001g0135 others(66): Show |
69 | 83 | 0.8313 | 7 | c.100 others(24): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 15/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0004a0001c0053others(7): Show | a0001c0002t0001a0001c0004t0001a0001c0053t0004others(8): Show | a0001c0002t0001g0019 a0001c0004t0001g0083 a0001c0053t0004g0079 others(10): Show |
13 | 47 | 0.2766 | 7 | c.114 others(26): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLBD2_chr12_113353587_113396629 | 113367759 | A | AAAAAAAG | intron_variant | MODIFIER | HG01168.hp2 HG01496.hp2 HG02040.hp1 others(31): Show |
a0001 | a0001c0001a0001c0006a0001c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0025 a0001c0001t0003g0002 a0001c0001t0003g0024 others(22): Show |
34 | 243 | 0.1399 | 7 | c.291 others(24): Show |
PLBD2 | ENSG00000151176.8 | transcript | ENST00000280800.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8429562 | G | GTGAATGA | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0001 | a0001c0001t0006g0028 a0001c0003t0001g0029 |
2 | 106 | 0.0189 | 7 | c.246 others(26): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8482092 | A | ATTTTTTT | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0002a0001c0005t0001a0001c0005t0007others(1): Show | a0001c0001t0002g0056 a0001c0005t0001g0033 a0001c0005t0007g0032 others(1): Show |
4 | 29 | 0.1379 | 7 | c.246 others(28): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8486535 | C | CCGGACTG | intron_variant | MODIFIER | HG02559.hp1 HG03540.hp2 NA19043.hp2 |
a0001a0007 | a0001c0008a0001c0011a0007c0012 | a0001c0008t0012a0001c0011t0006a0007c0012t0002 | a0001c0008t0012g0102 a0001c0011t0006g0051 a0007c0012t0002g0001 |
3 | 106 | 0.0283 | 7 | c.246 others(28): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8543620 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01071.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0016g0064 a0001c0002t0001g0031 a0001c0002t0001g0038 others(16): Show |
19 | 84 | 0.2262 | 7 | c.247 others(26): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8638983 | T | TTCTTTTC | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0008a0001c0022 | a0001c0008t0001a0001c0008t0012a0001c0022t0015 | a0001c0008t0001g0101 a0001c0008t0001g0105 a0001c0008t0012g0102 others(1): Show |
4 | 86 | 0.0465 | 7 | c.385 others(24): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8732624 | G | GAATTAGA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00741.hp2 others(37): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0035 others(37): Show |
40 | 106 | 0.3774 | 7 | c.188 others(24): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 18/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8750984 | G | GGAGTGCA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01106.hp2 others(22): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(11): Show | a0001c0001t0004g0104 a0001c0002t0001g0031 a0001c0002t0001g0037 others(22): Show |
25 | 106 | 0.2358 | 7 | c.252 others(26): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9067199 | T | TCTCGAAC | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02451.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0137 others(3): Show |
6 | 138 | 0.0435 | 7 | c.-21 others(18): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 1887 | chr20 | TogoVar | |||||||
PLCB4_chr20_9064087_9485808 | 9081768 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01978.hp1 HG02132.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0001g0100 others(4): Show |
7 | 70 | 0.1000 | 7 | c.-13 others(28): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |