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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGK_chr1_77083989_77224430 | 77189716 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 366 | 0.0027 | -44 | c.239 others(63): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571494 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0004a0001c0008t0004a0001c0008t0016 | a0001c0004t0004g0324a0001c0008t0004g0325a0001c0008t0004g0328others(1): Show | 4 | 408 | 0.0098 | -44 | c.-10 others(61): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGT_chr20_45411141_45431241 | 45425141 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01934.hp1 NA18939.hp2 NA18944.hp2 others(28): Show |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0001a0010c0015t0001 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0025others(15): Show | 31 | 462 | 0.0671 | -44 | c.148 others(61): Show |
PIGT | ENSG00000124155.19 | transcript | ENST00000279036.12 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PIGU_chr20_34555542_34682092 | 34631753 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0215 | 1 | 320 | 0.0031 | -44 | c.529 others(61): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631759 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0013others(7): Show | 10 | 320 | 0.0313 | -44 | c.529 others(61): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17181621 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0036a0001c0003t0004g0057 | 2 | 342 | 0.0059 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17181623 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03579.hp2 NA18966.hp2 NA19078.hp2 others(1): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0004a0001c0003t0012a0001c0018t0016 | a0001c0003t0004g0024a0001c0003t0004g0049a0001c0003t0012g0102others(1): Show | 4 | 342 | 0.0117 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17181625 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 342 | 0.0029 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650700 | GTGTGTAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0121 | 1 | 176 | 0.0057 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2285 | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03688.hp1 |
a0001a0002 | a0001c0021a0002c0003 | a0001c0021t0004a0002c0003t0004 | a0001c0021t0004g0170a0002c0003t0004g0168 | 2 | 176 | 0.0114 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650704 | GTATATAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02683.hp2 |
a0001a0010 | a0001c0010a0010c0013 | a0001c0010t0003a0010c0013t0001 | a0001c0010t0003g0171a0010c0013t0001g0001 | 2 | 176 | 0.0114 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2289 | chr12 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42054126 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0049 | a0001c0007t0049g0013 | 1 | 340 | 0.0029 | -44 | c.226 others(63): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PIP5K1C_chr19_3625183_3705468 | 3625975 | AGTCCTGC others(37): Show |
A | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 332 | 0.0030 | -44 | c.*71 others(55): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 4207 | chr19 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109394291 | ACCCGCCT others(37): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0262 | 2 | 346 | 0.0058 | -44 | c.-87 others(63): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100315005 | AGGAAGGA others(37): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 306 | 0.0033 | -44 | c.349 others(63): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321720 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 2 | 306 | 0.0065 | -44 | c.349 others(61): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88820191 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0005a0001c0005t0008 | a0001c0003t0005g0007a0001c0003t0005g0148a0001c0003t0005g0149others(8): Show | 11 | 330 | 0.0333 | -44 | c.228 others(63): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN3_chr9_128697503_128725916 | 128725116 | AGGGACTG others(37): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 360 | 0.0028 | -44 | c.*45 others(55): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 4201 | chr9 | TogoVar | ||||||
PLAG1_chr8_56155909_56216273 | 56207736 | ATAGCTTC others(37): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 308 | 0.0033 | -44 | c.-32 others(63): Show |
PLAG1 | ENSG00000181690.8 | transcript | ENST00000316981.8 | protein_coding | 1/4 | chr8 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8831912 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0019a0001c0001t0002g0050a0001c0001t0010g0008others(10): Show | 13 | 106 | 0.1226 | -44 | c.342 others(65): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCE1_chr10_93988931_94337823 | 94141504 | GAAGGGAA others(37): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01175.hp1 others(19): Show |
a0001a0002a0004others(7): Show | a0001c0007a0002c0011a0004c0008others(12): Show | a0001c0007t0023a0002c0011t0009a0004c0008t0008others(18): Show | a0001c0007t0023g0039a0002c0011t0009g0089a0004c0008t0008g0045others(19): Show | 22 | 118 | 0.1864 | -44 | c.149 others(63): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLCH2_chr1_2471289_2510532 | 2483836 | GTGGCGCT others(37): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 HG03209.hp2 others(6): Show |
a0001a0018a0019others(1): Show | a0001c0001a0001c0002a0018c0033others(2): Show | a0001c0001t0002a0001c0002t0001a0018c0033t0001others(2): Show | a0001c0001t0002g0036a0001c0001t0002g0144a0001c0002t0001g0019others(4): Show | 9 | 383 | 0.0235 | -44 | c.646 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483919 | TGGGGGGG others(37): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 383 | 0.0026 | -44 | c.646 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCL1_chr2_197799593_198154863 | 197890805 | CTATATAT others(37): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(141): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0020others(48): Show | a0001c0001t0005g0143a0001c0001t0010g0204a0001c0001t0020g0056others(141): Show | 144 | 204 | 0.7059 | -44 | c.240 others(63): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171764880 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | NA18948.hp2 NA18957.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0021 | a0002c0003t0003g0001a0002c0003t0021g0064 | 2 | 294 | 0.0068 | -44 | c.-31 others(63): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764933 | GGAAAGAA others(37): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0081 | 3 | 294 | 0.0102 | -44 | c.-31 others(63): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242194574 | CTATCTAT others(37): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0037a0001c0001t0001g0043others(11): Show | 14 | 188 | 0.0745 | -44 | c.735 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393563 | TATATGTG others(37): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0066 | a0001c0002t0066g0146 | 1 | 188 | 0.0053 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393664 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 1 | 188 | 0.0053 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394294 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02559.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0006g0103 | 3 | 188 | 0.0160 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394433 | AGTATATA others(37): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0013a0001c0002t0069 | a0001c0001t0006g0060a0001c0001t0006g0061a0001c0002t0013g0170others(1): Show | 4 | 188 | 0.0213 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394727 | CATATATG others(37): Show |
C | intron_variant | MODIFIER | NA18998.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0058a0001c0001t0019g0087 | 2 | 188 | 0.0106 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204360271 | CCCAGCCA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 NA21309.hp2 |
a0003a0006 | a0003c0022a0006c0025 | a0003c0022t0001a0006c0025t0055 | a0003c0022t0001g0015a0006c0025t0055g0014 | 2 | 270 | 0.0074 | -44 | c.-71 others(53): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 343 | chr1 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150776929 | TCACATCA others(37): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 NA20300.hp2 |
a0001a0015 | a0001c0001a0001c0037a0015c0036 | a0001c0001t0001a0001c0037t0021a0015c0036t0001 | a0001c0001t0001g0232a0001c0037t0021g0181a0015c0036t0001g0231 | 3 | 272 | 0.0110 | -44 | c.512 others(61): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG2_chr19_39407669_39433415 | 39429585 | GCAGTGGT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02165.hp1 HG03579.hp2 others(2): Show |
a0001a0033 | a0001c0001a0033c0027 | a0001c0001t0001a0001c0001t0022a0033c0027t0040 | a0001c0001t0001g0062a0001c0001t0001g0076a0001c0001t0022g0037others(2): Show | 5 | 414 | 0.0121 | -44 | c.*42 others(55): Show |
PLEKHG2 | ENSG00000090924.15 | transcript | ENST00000425673.6 | protein_coding | 1171 | chr19 | TogoVar | ||||||
PLEKHG3_chr14_64699424_64755249 | 64716458 | ACACACAC others(37): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0072 | 1 | 248 | 0.0040 | -44 | c.-39 others(63): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
PLGRKT_chr9_5352971_5442925 | 5441939 | CGTATATA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 414 | 0.0024 | -44 | c.-43 others(55): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4015 | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101198602 | AGAGCCTA others(37): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 203 | 0.0049 | -44 | c.63+ others(61): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20014355 | TTTCCTTC others(37): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02886.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0038a0001c0001t0060others(4): Show | a0001c0001t0001g0009a0001c0001t0038g0153a0001c0001t0060g0073others(4): Show | 7 | 180 | 0.0389 | -44 | c.324 others(63): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20014387 | CTTCCTTC others(37): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 NA18906.hp2 |
a0005 | a0005c0006 | a0005c0006t0027a0005c0006t0065a0005c0006t0129 | a0005c0006t0027g0160a0005c0006t0065g0010a0005c0006t0129g0138 | 3 | 180 | 0.0167 | -44 | c.324 others(63): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA4_chr7_132118340_132581470 | 132188973 | GGAAAGGA others(37): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0016a0001c0002t0012a0001c0017t0003others(1): Show | a0001c0001t0016g0047a0001c0002t0012g0068a0001c0017t0003g0088others(1): Show | 4 | 88 | 0.0455 | -44 | c.285 others(63): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41572367 | CCCACCCA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 330 | 0.0030 | -44 | c.*49 others(55): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4532 | chr22 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502139 | CTGGGAGC others(37): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 188 | 0.0053 | -44 | c.147 others(61): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
POLR2M_chr15_57701714_57722557 | 57711499 | GCTGGGAT others(37): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0005 | a0004c0005t0015 | a0004c0005t0015g0119 | 1 | 404 | 0.0025 | -44 | c.759 others(59): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 2/3 | chr15 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22295429 | GACTTATT others(37): Show |
G | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 358 | 0.0028 | -44 | c.-21 others(55): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 1979 | chr16 | TogoVar | ||||||
POMT1_chr9_131497918_131528799 | 131515951 | ACACTTCC others(37): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 334 | 0.0030 | -44 | c.127 others(61): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
POU2AF1_chr11_111347255_111384275 | 111352963 | GAGGAAGG others(37): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0018a0001c0001t0024a0001c0001t0062others(1): Show | a0001c0001t0018g0110a0001c0001t0018g0214a0001c0001t0018g0257others(6): Show | 9 | 384 | 0.0234 | -44 | c.*12 others(55): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 5/5 | 1254 | chr11 | TogoVar | |||||
POU2AF2_chr11_111240725_111291401 | 111264491 | CGAAAGAA others(37): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0137 | 3 | 380 | 0.0079 | -44 | c.120 others(61): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(37): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0007a0003c0009t0017others(1): Show | a0001c0001t0001g0006a0001c0001t0007g0041a0001c0001t0007g0042others(3): Show | 6 | 170 | 0.0353 | -44 | c.148 others(63): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70220603 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01243.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0024others(20): Show | 28 | 408 | 0.0686 | -44 | c.124 others(61): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar |