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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1A_chr2_182135041_182432036 | 182385704 | GCTCTCCC others(53): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0131 a0001c0001t0001g0164 a0001c0001t0002g0163 others(17): Show |
20 | 264 | 0.0758 | -60 | c.53+ others(77): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59200671 | AGATACAC others(53): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0015 a0001c0001t0003g0072 a0001c0001t0004g0028 others(5): Show |
8 | 74 | 0.1081 | -60 | c.648 others(77): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 2/14 | chr5 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42670360 | ACACACAC others(53): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01515.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0249 a0001c0001t0002g0139 others(12): Show |
15 | 324 | 0.0463 | -60 | c.70- others(77): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDLIM4_chr5_132252696_132278454 | 132275283 | AGGGCCCT others(53): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01070.hp2 others(25): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0012 a0001c0004t0003g0015 a0001c0004t0003g0035 others(13): Show |
28 | 410 | 0.0683 | -60 | c.*30 others(71): Show |
PDLIM4 | ENSG00000131435.13 | transcript | ENST00000253754.8 | protein_coding | 1830 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31849891 | CATATATA others(53): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0057 | 1 | 216 | 0.0046 | -60 | c.476 others(79): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849978 | ACATATAT others(53): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 216 | 0.0046 | -60 | c.476 others(79): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402132 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0001 | a0002c0002t0001g0087 a0005c0008t0001g0012 |
2 | 206 | 0.0097 | -60 | c.844 others(81): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977220 | CCCACCAA others(53): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0061 | 1 | 408 | 0.0025 | -60 | c.215 others(77): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13064558 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 108 | 0.0093 | -60 | c.415 others(79): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 613681 | ACGGGGGT others(53): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 a0002c0002t0001g0226 |
2 | 279 | 0.0072 | -60 | c.*19 others(71): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1460 | chr11 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0005a0001c0003t0003 | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 others(3): Show |
6 | 350 | 0.0171 | -60 | c.*51 others(71): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20736695 | GGGAGGGA others(53): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0023 | 1 | 334 | 0.0030 | -60 | c.374 others(79): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 32/54 | chr22 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4036765 | TACACCGT others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 334 | 0.0030 | -60 | c.114 others(77): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88741746 | CCAGGTGC others(53): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02647.hp2 HG03195.hp1 others(1): Show |
a0001a0020a0043others(1): Show | a0001c0105a0020c0135a0043c0136others(1): Show | a0001c0105t0001a0020c0135t0003a0043c0136t0003others(1): Show | a0001c0105t0001g0164 a0020c0135t0003g0017 a0043c0136t0003g0020 others(1): Show |
4 | 282 | 0.0142 | -60 | c.327 others(75): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 4/50 | chr16 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631745 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 320 | 0.0031 | -60 | c.529 others(77): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18369464 | TGATCATA others(53): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0009a0002c0014others(2): Show | a0001c0001t0001a0002c0009t0002a0002c0014t0002others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0167 a0002c0009t0002g0019 others(5): Show |
8 | 176 | 0.0455 | -60 | c.174 others(79): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18369717 | GTCGTATA others(53): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02897.hp2 others(1): Show |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0022 | a0001c0001t0001a0003c0002t0005a0006c0022t0002 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0003c0002t0005g0118 others(1): Show |
4 | 176 | 0.0227 | -60 | c.174 others(79): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18369747 | GTCGTATA others(53): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG02622.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0031a0001c0039others(5): Show | a0001c0001t0001a0001c0031t0001a0001c0039t0003others(6): Show | a0001c0001t0001g0056 a0001c0001t0001g0167 a0001c0031t0001g0059 others(9): Show |
12 | 176 | 0.0682 | -60 | c.174 others(79): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42009616 | CTACATTA others(53): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(212): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0129 others(211): Show |
215 | 340 | 0.6324 | -60 | c.117 others(79): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8840174 | CCAAATAT others(53): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 354 | 0.0028 | -60 | c.14- others(73): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109353084 | ATAGACAT others(53): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 346 | 0.0029 | -60 | c.176 others(79): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401380 | CCGGCCCC others(53): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0037 | a0005c0037t0005 | a0005c0037t0005g0087 | 1 | 216 | 0.0046 | -60 | c.173 others(77): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401384 | CCCCGCTC others(53): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0051 | 1 | 216 | 0.0046 | -60 | c.173 others(77): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401398 | GCCCCGCT others(53): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02056.hp2 NA18995.hp1 |
a0001 | a0001c0007a0001c0012 | a0001c0007t0001a0001c0012t0001 | a0001c0007t0001g0213 a0001c0012t0001g0123 a0001c0012t0001g0126 |
3 | 216 | 0.0139 | -60 | c.173 others(77): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402681 | CGACCCGC others(53): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 | 1 | 216 | 0.0046 | -60 | c.173 others(77): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 280335 | GGGGAGGC others(53): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01346.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(12): Show | a0001c0001t0005g0084 a0001c0001t0005g0096 a0001c0001t0010g0087 others(15): Show |
18 | 176 | 0.1023 | -60 | c.-13 others(71): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1045 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280641 | AGGCCGTG others(53): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0042 | a0001c0010t0042g0163 | 1 | 176 | 0.0057 | -60 | c.-10 others(71): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 739 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 281021 | GAGGCCGT others(53): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0015 | 1 | 176 | 0.0057 | -60 | c.-68 others(69): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 359 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 287501 | CTATATAT others(53): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0015 a0001c0001t0012g0149 |
2 | 176 | 0.0114 | -60 | c.128 others(77): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41471793 | TTCCCTTC others(53): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0011 a0001c0001t0017g0192 a0001c0001t0017g0194 |
3 | 244 | 0.0123 | -60 | c.103 others(79): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLCXD3_chr5_41301952_41515601 | 41471848 | CTCCCCTC others(53): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 a0001c0001t0004g0244 |
2 | 244 | 0.0082 | -60 | c.103 others(79): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764864 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0175 | 1 | 294 | 0.0034 | -60 | c.-31 others(79): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194566 | ATATCTAT others(53): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0074 a0001c0001t0021g0117 |
2 | 188 | 0.0106 | -60 | c.735 others(79): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 105077 | CTGGTGTT others(53): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG04204.hp2 |
a0004 | a0004c0006a0004c0043 | a0004c0006t0125a0004c0043t0126 | a0004c0006t0125g0048 a0004c0043t0126g0099 |
2 | 210 | 0.0095 | -60 | c.46- others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 110545 | CGTGCACA others(53): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0017 | a0017c0030 | a0017c0030t0039 | a0017c0030t0039g0140 | 1 | 210 | 0.0048 | -60 | c.46- others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 164892 | TCACACAG others(53): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01928.hp2 HG02004.hp2 others(1): Show |
a0002a0018a0019 | a0002c0003a0002c0039a0018c0022others(1): Show | a0002c0003t0002a0002c0039t0009a0018c0022t0011others(1): Show | a0002c0003t0002g0132 a0002c0039t0009g0030 a0018c0022t0011g0195 others(1): Show |
4 | 210 | 0.0191 | -60 | c.347 others(79): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 175790 | ACCCCCTC others(53): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00741.hp1 others(9): Show |
a0001a0003a0019others(3): Show | a0001c0052a0003c0009a0003c0056others(4): Show | a0001c0052t0118a0003c0009t0017a0003c0009t0119others(8): Show | a0001c0052t0118g0121 a0003c0009t0017g0088 a0003c0009t0017g0093 others(9): Show |
12 | 210 | 0.0571 | -60 | c.440 others(79): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLIN1_chr15_89659367_89684367 | 89663571 | GCCAGGGC others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG02155.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0004t0001g0015 others(3): Show |
6 | 460 | 0.0130 | -60 | c.*19 others(71): Show |
PLIN1 | ENSG00000166819.12 | transcript | ENST00000300055.10 | protein_coding | 795 | chr15 | TogoVar | |||||||
PLIN1_chr15_89659367_89684367 | 89663631 | TCCAGGGC others(53): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0157 |
2 | 460 | 0.0044 | -60 | c.*18 others(71): Show |
PLIN1 | ENSG00000166819.12 | transcript | ENST00000300055.10 | protein_coding | 735 | chr15 | TogoVar | |||||||
PLIN1_chr15_89659367_89684367 | 89663671 | TCCAGGGC others(53): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01255.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0021 a0001c0001t0001g0105 a0001c0001t0001g0108 others(9): Show |
12 | 460 | 0.0261 | -60 | c.*18 others(71): Show |
PLIN1 | ENSG00000166819.12 | transcript | ENST00000300055.10 | protein_coding | 695 | chr15 | TogoVar | |||||||
PLIN1_chr15_89659367_89684367 | 89663851 | TCCAGGGC others(53): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01255.hp2 others(28): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0001t0001g0113 others(21): Show |
31 | 460 | 0.0674 | -60 | c.*16 others(71): Show |
PLIN1 | ENSG00000166819.12 | transcript | ENST00000300055.10 | protein_coding | 515 | chr15 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132132380 | TTGTTCTG others(53): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0003a0001c0008a0001c0012others(2): Show | a0001c0003t0002a0001c0008t0019a0001c0012t0002others(2): Show | a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0008t0019g0054 others(3): Show |
6 | 88 | 0.0682 | -60 | c.558 others(77): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94177149 | GTATATAT others(53): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01934.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0002t0001g0296 |
3 | 298 | 0.0101 | -60 | c.120 others(79): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13936874 | CCAACACC others(53): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 432 | 0.0023 | -60 | c.226 others(75): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
PODNL1_chr19_13926187_13943417 | 13937114 | ACAACACC others(53): Show |
A | intron_variant | MODIFIER | HG03195.hp2 HG03516.hp1 |
a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0032 | 2 | 432 | 0.0046 | -60 | c.225 others(75): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613572 | CGGGGCCG others(53): Show |
C | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0019 | a0019c0035 | a0019c0035t0003 | a0019c0035t0003g0275 | 1 | 422 | 0.0024 | -60 | c.*36 others(71): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3648 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613608 | CGGGGATG others(53): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0271 | 1 | 422 | 0.0024 | -60 | c.*36 others(71): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3612 | chr19 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13639735 | TACACACG others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(291): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0003a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(45): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(166): Show |
294 | 416 | 0.7067 | -60 | c.153 others(77): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTEJ_chr2_130606440_130663037 | 130613255 | CACATATA others(53): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0117 | 1 | 131 | 0.0076 | -60 | c.410 others(77): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POU2AF1_chr11_111347255_111384275 | 111352963 | GAGGAAGG others(53): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01928.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0048 | a0001c0001t0016g0020 a0001c0001t0016g0039 a0001c0001t0016g0142 others(3): Show |
7 | 384 | 0.0182 | -60 | c.*12 others(71): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 5/5 | 1238 | chr11 | TogoVar |