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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LYPD8_chr1_248734415_248760759 | 248747245 | GCCCGCAC others(117): Show |
G | intron_variant | MODIFIER | HG01258.hp1 NA18957.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0108 a0001c0001t0001g0120 others(1): Show |
4 | 374 | 0.0107 | -124 | c.337 others(16): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248747431 | GCCCGCAC others(117): Show |
G | intron_variant | MODIFIER | HG01258.hp1 NA18953.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0108 a0001c0001t0001g0223 others(1): Show |
4 | 374 | 0.0107 | -124 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248747710 | CCCCGCAC others(117): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 374 | 0.0027 | -124 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248748020 | CCCCGCAC others(117): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 374 | 0.0027 | -124 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1861395 | TCACTGCT others(117): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG02922.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 others(8): Show |
11 | 264 | 0.0417 | -124 | c.199 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAP2_chr2_209419047_209739112 | 209472791 | ACAGTCAA others(117): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 148 | 0.0068 | -124 | c.-22 others(21): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP2_chr2_209419047_209739112 | 209505632 | TGGATACT others(117): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0075 | 1 | 148 | 0.0068 | -124 | c.-22 others(19): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 1/15 | chr2 | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1738124 | GTGACTGT others(117): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0007a0001c0005t0005others(3): Show | a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0319 others(7): Show |
10 | 330 | 0.0303 | -124 | c.603 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MC1R_chr16_89913862_89925972 | 89914183 | GTGTGTGT others(117): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0000 | 1 | 396 | 0.0025 | -124 | c.-50 others(11): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 4678 | chr16 | TogoVar | |||||||
METTL24_chr6_110238940_110363349 | 110302525 | GTATATAT others(117): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(40): Show | a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 others(86): Show |
89 | 268 | 0.3321 | -124 | c.558 others(17): Show |
METTL24 | ENSG00000053328.9 | transcript | ENST00000338882.5 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129742520 | AGGGCATT others(117): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0053 | 1 | 194 | 0.0052 | -124 | c.275 others(19): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MOB3B_chr9_27320209_27534814 | 27342737 | GGATTGCA others(117): Show |
G | intron_variant | MODIFIER | NA18959.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0172a0001c0001t0230 | a0001c0001t0172g0124 a0001c0001t0230g0297 |
2 | 320 | 0.0063 | -124 | c.622 others(19): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144175247 | CGGTCGGA others(117): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0008a0004c0025 | a0001c0001t0001a0002c0008t0001a0004c0025t0001 | a0001c0001t0001g0037 a0002c0008t0001g0020 a0002c0008t0001g0036 others(3): Show |
6 | 140 | 0.0429 | -124 | c.169 others(17): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 101018033 | TCCCTCCC others(117): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0113 | a0113c0128 | a0113c0128t0001 | a0113c0128t0001g0108 | 1 | 342 | 0.0029 | -124 | c.159 others(19): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101018033 | TCCCTCCC others(117): Show |
T | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0005 | 1 | 366 | 0.0027 | -124 | c.-21 others(11): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 2047 | chr7 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701652 | ATTTATTT others(117): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0132 | 1 | 326 | 0.0031 | -124 | c.628 others(17): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NDUFB11_chrX_47137216_47149702 | 47148585 | TATGTATC others(117): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01167.hp1 HG01169.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(11): Show |
24 | 274 | 0.0876 | -124 | c.-40 others(11): Show |
NDUFB11 | ENSG00000147123.12 | transcript | ENST00000377811.4 | protein_coding | 3884 | chrX | TogoVar | |||||||
NEFH_chr22_29475218_29496390 | 29493459 | TCCGCCTC others(117): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 448 | 0.0022 | -124 | c.*27 others(11): Show |
NEFH | ENSG00000100285.10 | transcript | ENST00000310624.7 | protein_coding | 2070 | chr22 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44797860 | CCATTCCA others(117): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 158 | 0.0063 | -124 | c.336 others(19): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 590716 | AGGGAGGC others(117): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02040.hp1 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139 a0001c0001t0001g0257 a0001c0001t0001g0323 others(3): Show |
6 | 404 | 0.0149 | -124 | c.34- others(17): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1022465 | TGTCCCAG others(117): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 a0001c0001t0004g0058 |
2 | 319 | 0.0063 | -124 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1025709 | GTCCCAGC others(117): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 319 | 0.0031 | -124 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1036908 | CCAGGCAG others(117): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG01928.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0005g0090 others(12): Show |
18 | 319 | 0.0564 | -124 | c.787 others(15): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1036946 | GGGCAGTG others(117): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01358.hp1 HG02040.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0019 others(18): Show |
25 | 319 | 0.0784 | -124 | c.787 others(15): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193686890 | TACACTGC others(117): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0363 | 1 | 388 | 0.0026 | -124 | c.298 others(19): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OR1A1_chr17_3202667_3223896 | 3221499 | AATATATA others(117): Show |
A | downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -124 | c.*49 others(11): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 2604 | chr17 | TogoVar | |||||||
OR1A1_chr17_3202667_3223896 | 3221573 | TATAATAT others(117): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -124 | c.*50 others(11): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 2678 | chr17 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38161669 | CATGTCAT others(117): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182 | 1 | 248 | 0.0040 | -124 | c.-42 others(11): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3867 | chr3 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269849 | GAAAGAAA others(117): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 130 | 0.0077 | -124 | c.614 others(19): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163269853 | GAAAGAGA others(117): Show |
G | intron_variant | MODIFIER | HG02647.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0002g0067 |
2 | 130 | 0.0154 | -124 | c.614 others(19): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59200581 | CTACACGT others(117): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 74 | 0.0135 | -124 | c.648 others(17): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 2/14 | chr5 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238275973 | CATTTTCT others(117): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0014a0001c0001t0024a0001c0010t0001others(1): Show | a0001c0001t0014g0010 a0001c0001t0014g0030 a0001c0001t0024g0031 others(3): Show |
7 | 370 | 0.0189 | -124 | c.294 others(14): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 3/22 | chr2 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401229 | GCCCCGCT others(117): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 | 1 | 216 | 0.0046 | -124 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402133 | CGGCTCCA others(117): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG02004.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0006t0001g0206 |
3 | 216 | 0.0139 | -124 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 290813 | TGGGAGGC others(117): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0099 a0001c0001t0018g0100 |
2 | 176 | 0.0114 | -124 | c.393 others(14): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 290829 | ACTGGTGC others(117): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(92): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(89): Show |
95 | 176 | 0.5398 | -124 | c.393 others(14): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 290882 | CGGCCGGG others(117): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0008 | a0008c0008 | a0008c0008t0077 | a0008c0008t0077g0072 | 1 | 176 | 0.0057 | -124 | c.393 others(15): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 164455 | TCACAGTA others(117): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0015 | a0015c0019 | a0015c0019t0062 | a0015c0019t0062g0191 | 1 | 210 | 0.0048 | -124 | c.347 others(18): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977171 | AACCGCCT others(117): Show |
A | downstream_gene_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0005 | 1 | 422 | 0.0024 | -124 | c.*25 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1307 | chr1 | TogoVar | |||||||
PPARG_chr3_12284070_12439344 | 12323340 | ATTTGGTG others(117): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02615.hp1 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 others(4): Show |
7 | 294 | 0.0238 | -124 | c.-9+ others(17): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6336653 | CTCCCTCC others(117): Show |
C | intron_variant | MODIFIER | HG06807.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0047 | a0001c0002t0008g0206 a0001c0003t0047g0263 |
2 | 298 | 0.0067 | -124 | c.791 others(17): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50345823 | AAGTCAGT others(117): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0167 | 1 | 340 | 0.0029 | -124 | c.-14 others(19): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50433425 | TGCTGGGC others(117): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0009 | a0009c0030 | a0009c0030t0027 | a0009c0030t0027g0069 | 1 | 340 | 0.0029 | -124 | c.140 others(19): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50433794 | GGATGCTG others(117): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp1 HG02165.hp1 |
a0001a0012 | a0001c0001a0012c0022 | a0001c0001t0001a0001c0001t0007a0012c0022t0002 | a0001c0001t0001g0074 a0001c0001t0007g0096 a0012c0022t0002g0121 |
3 | 340 | 0.0088 | -124 | c.140 others(19): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50434059 | CGGGCATT others(117): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0223 others(148): Show |
151 | 340 | 0.4441 | -124 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50434132 | TCTGGAGG others(117): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01433.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0074 a0001c0001t0001g0257 a0001c0001t0001g0262 others(2): Show |
5 | 340 | 0.0147 | -124 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161552332 | ATGACTGT others(117): Show |
A | intron_variant | MODIFIER | HG02897.hp1 NA18522.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0003a0006c0010t0005 | a0001c0001t0003g0022 a0006c0010t0005g0013 |
2 | 32 | 0.0625 | -124 | c.934 others(17): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 8/11 | chr6 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56686592 | GTCTCGAA others(117): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0362 | 1 | 372 | 0.0027 | -124 | c.2+1 others(13): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111560986 | GAGAGAGA others(117): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02451.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0024 a0002c0002t0002g0219 a0002c0002t0002g0227 others(1): Show |
4 | 408 | 0.0098 | -124 | c.*20 others(11): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1580 | chr9 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248627 | GTATATAT others(117): Show |
G | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0206 | 1 | 384 | 0.0026 | -124 | c.-53 others(19): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |