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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKP3_chr11_389209_409908 | 402659 | G | GCCCCGCT others(18): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 216 | 0.0046 | 25 | c.173 others(42): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PLA2G12A_chr4_109704989_109735070 | 109730128 | T | TGGGGCGG others(18): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0033a0001c0001t0012g0115a0001c0001t0012g0116others(3): Show | 7 | 412 | 0.0170 | 25 | c.-32 others(34): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 59 | chr4 | TogoVar | ||||||
PLA2G2D_chr1_20106939_20124536 | 20107510 | G | GTGTTTGG others(18): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01884.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0004g0016a0001c0001t0008g0010others(2): Show | 11 | 464 | 0.0237 | 25 | c.*66 others(36): Show |
PLA2G2D | ENSG00000117215.15 | transcript | ENST00000375105.8 | protein_coding | 4428 | chr1 | TogoVar | ||||||
PLA2G2D_chr1_20106939_20124536 | 20111920 | C | CTTATTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0013a0001c0001t0023g0099 | 2 | 464 | 0.0043 | 25 | c.*21 others(36): Show |
PLA2G2D | ENSG00000117215.15 | transcript | ENST00000375105.8 | protein_coding | 18 | chr1 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186857127 | A | AATATATA others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0023others(5): Show | 8 | 310 | 0.0258 | 25 | c.33+ others(40): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48097251 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0258 | 1 | 322 | 0.0031 | 25 | c.568 others(40): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 6/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105945 | C | CCTTTCTT others(18): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0030 | 1 | 322 | 0.0031 | 25 | c.9-5 others(36): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02273.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0038a0001c0001t0083a0001c0003t0038 | a0001c0001t0038g0189a0001c0001t0083g0195a0001c0003t0038g0168 | 3 | 326 | 0.0092 | 25 | c.*58 others(36): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | |||||
PLAG1_chr8_56155909_56216273 | 56183738 | T | TGTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 308 | 0.0033 | 25 | c.-32 others(44): Show |
PLAG1 | ENSG00000181690.8 | transcript | ENST00000316981.8 | protein_coding | 1/4 | chr8 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03041.hp1 NA18971.hp2 |
a0001a0004 | a0001c0002a0001c0013a0004c0009 | a0001c0002t0001a0001c0013t0002a0004c0009t0003 | a0001c0002t0001g0225a0001c0013t0002g0187a0004c0009t0003g0227 | 3 | 266 | 0.0113 | 25 | c.114 others(44): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8130116 | G | GAGGAAAG others(18): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02622.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0014a0001c0002t0001a0001c0007t0007others(2): Show | a0001c0001t0014g0007a0001c0002t0001g0097a0001c0007t0007g0014others(2): Show | 5 | 106 | 0.0472 | 25 | c.-25 others(36): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 2149 | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8676372 | A | AAAAGAAA others(18): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 106 | 0.0094 | 25 | c.863 others(42): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8744616 | T | TAAATAAA others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0002g0078a0001c0002t0001g0031a0001c0002t0003g0079others(10): Show | 13 | 106 | 0.1226 | 25 | c.252 others(44): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB3_chr11_64246530_64272923 | 64257016 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0073 | 1 | 382 | 0.0026 | 25 | c.101 others(42): Show |
PLCB3 | ENSG00000149782.13 | transcript | ENST00000279230.12 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLCD1_chr3_38002496_38034642 | 38033999 | A | ACACACAC others(18): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | 25 | c.-44 others(36): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 4358 | chr3 | TogoVar | ||||||
PLCG2_chr16_81774291_81967685 | 81802093 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0055a0001c0003t0002g0116 | 2 | 330 | 0.0061 | 25 | c.193 others(44): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81803558 | C | CTTCCTTT others(18): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18994.hp1 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0018a0001c0011t0002 | a0001c0007t0018g0150a0001c0011t0002g0033 | 2 | 330 | 0.0061 | 25 | c.193 others(44): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81824004 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02622.hp1 |
a0001 | a0001c0002a0001c0007a0001c0023 | a0001c0002t0011a0001c0007t0011a0001c0023t0005 | a0001c0002t0011g0087a0001c0007t0011g0161a0001c0023t0005g0005 | 3 | 330 | 0.0091 | 25 | c.194 others(44): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81950959 | A | AAAAGAAT others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0045 | a0001c0045t0002 | a0001c0045t0002g0199 | 1 | 330 | 0.0030 | 25 | c.357 others(44): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCH1_chr3_155474881_155750071 | 155737231 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 264 | 0.0038 | 25 | c.-41 others(42): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155741684 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03540.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0003c0007t0004 | a0001c0002t0001g0028a0003c0007t0004g0011 | 2 | 264 | 0.0076 | 25 | c.-41 others(42): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41403398 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02004.hp1 HG03486.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0153a0001c0001t0007g0178a0001c0001t0007g0179 | 3 | 244 | 0.0123 | 25 | c.104 others(44): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41403399 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0106a0001c0001t0010g0001 | 2 | 244 | 0.0082 | 25 | c.104 others(44): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41403408 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0146 | 1 | 244 | 0.0041 | 25 | c.104 others(44): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
PLCZ1_chr12_18678180_18743012 | 18698242 | C | CTTCTATT others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03927.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0287a0002c0003t0001g0070 | 2 | 326 | 0.0061 | 25 | c.117 others(44): Show |
PLCZ1 | ENSG00000139151.16 | transcript | ENST00000266505.12 | protein_coding | 10/14 | chr12 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171710872 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01891.hp1 others(17): Show |
a0002a0009 | a0002c0003a0002c0017a0009c0012 | a0002c0003t0003a0002c0003t0005a0002c0003t0015others(2): Show | a0002c0003t0003g0036a0002c0003t0003g0037a0002c0003t0003g0038others(17): Show | 20 | 294 | 0.0680 | 25 | c.912 others(42): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 9/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242168846 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0114 | 1 | 188 | 0.0053 | 25 | c.736 others(44): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143945022 | C | CGGGCTCA others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02572.hp1 others(9): Show |
a0005a0007a0010others(8): Show | a0005c0167a0007c0035a0010c0156others(8): Show | a0005c0167t0001a0007c0035t0003a0010c0156t0003others(8): Show | a0005c0167t0001g0008a0007c0035t0003g0100a0007c0035t0003g0103others(9): Show | 12 | 302 | 0.0397 | 25 | c.71- others(40): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143965427 | T | TCCACCTG others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(112): Show |
a0001a0002a0004others(41): Show | a0001c0001a0001c0032a0002c0002others(65): Show | a0001c0001t0001a0001c0032t0001a0002c0002t0002others(66): Show | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0032t0001g0065others(112): Show | 115 | 302 | 0.3808 | 25 | c.70+ others(40): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | ||||||
PLEKHA2_chr8_38896346_38978912 | 38933790 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01192.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0038a0001c0001t0001g0081a0001c0001t0001g0098others(20): Show | 23 | 376 | 0.0612 | 25 | c.142 others(42): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19167405 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0006 | a0001c0001t0004g0112a0001c0001t0004g0116a0001c0001t0007g0113others(3): Show | 6 | 316 | 0.0190 | 25 | c.227 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0004g0160a0001c0001t0004g0167a0001c0001t0004g0172others(5): Show | 8 | 316 | 0.0253 | 25 | c.228 others(40): 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(18): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 316 | 0.0032 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 316 | 0.0032 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19091.hp1 |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0009a0009c0006t0002 | a0001c0001t0009g0219a0009c0006t0002g0069 | 2 | 316 | 0.0063 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0055a0001c0001t0002g0119a0001c0001t0002g0124others(2): Show | 5 | 316 | 0.0158 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0011 | 1 | 316 | 0.0032 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 316 | 0.0032 | 25 | c.244 others(44): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA7_chr11_16772297_17019414 | 16889420 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 244 | 0.0041 | 25 | c.222 others(44): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16891070 | C | CTCTATTC others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01433.hp2 others(4): Show |
a0001a0014 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0044a0001c0001t0002g0139others(4): Show | 7 | 244 | 0.0287 | 25 | c.222 others(44): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16892435 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0216 | 1 | 244 | 0.0041 | 25 | c.222 others(44): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30073563 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0014 | 1 | 234 | 0.0043 | 25 | c.130 others(42): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PLEKHB1_chr11_73641581_73667819 | 73664444 | T | TCCTTCCC others(18): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 NA19011.hp2 NA19056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057a0001c0001t0002g0016 | 6 | 416 | 0.0144 | 25 | c.*28 others(36): Show |
PLEKHB1 | ENSG00000021300.14 | transcript | ENST00000354190.10 | protein_coding | 1626 | chr11 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | A | ATTTATTT others(18): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18993.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0277a0001c0002t0002g0290 | 2 | 318 | 0.0063 | 25 | c.150 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | A | ATTTTATT others(18): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0237 | 1 | 318 | 0.0031 | 25 | c.150 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | A | ATTTTATT others(18): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18965.hp2 NA18966.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0280a0001c0002t0004g0291a0001c0002t0004g0292others(5): Show | 8 | 318 | 0.0252 | 25 | c.150 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498588 | T | TTTCTCTT others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG02040.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0023a0001c0002t0002others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0078a0001c0001t0001g0111others(9): Show | 12 | 318 | 0.0377 | 25 | c.150 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69498592 | T | TCTTCTCT others(18): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01981.hp1 others(10): Show |
a0001a0007 | a0001c0003a0007c0008 | a0001c0003t0001a0001c0003t0003a0007c0008t0001 | a0001c0003t0001g0135a0001c0003t0001g0158a0001c0003t0001g0189others(10): Show | 13 | 318 | 0.0409 | 25 | c.150 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHD1_chr14_69479728_69536551 | 69513244 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0171 | 1 | 318 | 0.0031 | 25 | c.556 others(42): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150644334 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0203 | 1 | 272 | 0.0037 | 25 | c.-15 others(44): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |