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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PMM2_chr16_8792839_8854325 | 8804020 | GGGTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 408 | 0.0025 | -10 | c.179 others(25): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PMM2_chr16_8792839_8854325 | 8827719 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02647.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0221a0001c0001t0003g0012a0001c0001t0003g0331others(3): Show | 6 | 408 | 0.0147 | -10 | c.639 others(29): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PMM2_chr16_8792839_8854325 | 8851967 | GAGCAGCA others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 408 | 0.0025 | -10 | c.*41 others(21): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2643 | chr16 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8851977 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0253a0001c0001t0015g0328 | 2 | 408 | 0.0049 | -10 | c.*41 others(21): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | ||||||
PMP22_chr17_15224779_15270326 | 15259951 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 426 | 0.0024 | -10 | c.78+ others(23): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
PMP22_chr17_15224779_15270326 | 15264245 | GATAGATA others(3): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0058 | 1 | 426 | 0.0024 | -10 | c.-35 others(25): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
PMPCB_chr7_103292435_103319686 | 103303761 | ATTTCTGA others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 436 | 0.0023 | -10 | c.458 others(23): Show |
PMPCB | ENSG00000105819.15 | transcript | ENST00000249269.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189792688 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0004others(1): Show | a0001c0001t0001a0002c0005t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0002c0005t0001g0227others(4): Show | 7 | 234 | 0.0299 | -10 | c.132 others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189860800 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 234 | 0.0043 | -10 | c.185 others(29): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189864681 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 234 | 0.0043 | -10 | c.234 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189864685 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 234 | 0.0043 | -10 | c.234 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189864687 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02976.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0001g0122a0001c0001t0001g0128others(3): Show | 6 | 234 | 0.0256 | -10 | c.234 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS2_chr7_5965925_6014049 | 5969147 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(80): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0003a0001c0012others(12): Show | a0001c0002t0002a0001c0002t0028a0001c0002t0030others(19): Show | a0001c0002t0002g0072a0001c0002t0002g0113a0001c0002t0002g0119others(79): Show | 83 | 408 | 0.2034 | -10 | c.*42 others(21): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 1777 | chr7 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6013255 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02723.hp2 others(9): Show |
a0003 | a0003c0004a0003c0008 | a0003c0004t0004a0003c0008t0007a0003c0008t0046 | a0003c0004t0004g0336a0003c0004t0004g0337a0003c0008t0007g0323others(9): Show | 12 | 408 | 0.0294 | -10 | c.-42 others(21): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 4207 | chr7 | TogoVar | ||||||
PNCK_chrX_153664733_153678813 | 153672954 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0019a0001c0001t0004g0024 | 3 | 276 | 0.0109 | -10 | c.68+ others(21): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 2/11 | chrX | TogoVar | ||||||
PNISR_chr6_99393050_99430308 | 99395154 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009 | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0023others(7): Show | 23 | 406 | 0.0567 | -10 | c.*53 others(21): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 2895 | chr6 | TogoVar | ||||||
PNISR_chr6_99393050_99430308 | 99419181 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp1 others(91): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(52): Show | 94 | 406 | 0.2315 | -10 | c.-11 others(29): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218314222 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151a0001c0001t0002g0011 | 2 | 280 | 0.0071 | -10 | c.237 others(29): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PNKD_chr2_218265519_218351793 | 218349324 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 280 | 0.0036 | -10 | c.*43 others(21): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2532 | chr2 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159811884 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 400 | 0.0025 | -10 | c.939 others(25): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | GAAAATAA others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0228a0001c0002t0001g0229a0001c0002t0002g0073 | 3 | 420 | 0.0071 | -10 | c.815 others(25): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PNLIPRP3_chr10_116422847_116482957 | 116443797 | GTGTGCAT others(3): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG02922.hp1 HG03540.hp1 others(3): Show |
a0001a0003a0014 | a0001c0001a0003c0004a0014c0016 | a0001c0001t0002a0003c0004t0002a0014c0016t0002 | a0001c0001t0002g0231a0001c0001t0002g0232a0003c0004t0002g0254others(3): Show | 6 | 288 | 0.0208 | -10 | c.325 others(25): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PNLIPRP3_chr10_116422847_116482957 | 116443799 | GTGCATAT others(3): Show |
G | intron_variant | MODIFIER | NA18982.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0016 | 1 | 288 | 0.0035 | -10 | c.325 others(25): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PNLIPRP3_chr10_116422847_116482957 | 116443801 | GCATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158a0001c0001t0003g0169 | 2 | 288 | 0.0069 | -10 | c.325 others(25): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
PNLIPRP3_chr10_116422847_116482957 | 116448690 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0213 | 1 | 288 | 0.0035 | -10 | c.456 others(27): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PNLIP_chr10_116540931_116572855 | 116570984 | GGAACTGG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 276 | 0.0036 | -10 | c.*31 others(21): Show |
PNLIP | ENSG00000175535.6 | transcript | ENST00000369221.2 | protein_coding | 3130 | chr10 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391123 | CCACACAC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0020a0002c0002t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0020g0045a0002c0002t0001g0040others(6): Show | 13 | 346 | 0.0376 | -10 | c.*57 others(21): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4515 | chrX | TogoVar | ||||||
PNMA8B_chr19_46486191_46500867 | 46498944 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02897.hp1 NA19001.hp2 NA19066.hp1 |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0005a0001c0007t0008a0002c0002t0002 | a0001c0001t0005g0000a0001c0007t0008g0000a0002c0002t0002g0000 | 3 | 426 | 0.0070 | -10 | c.-34 others(21): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 3078 | chr19 | TogoVar | ||||||
PNMA8C_chr19_46419697_46433936 | 46425243 | CAGTAGTA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0000 | 1 | 442 | 0.0023 | -10 | c.*24 others(21): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1/1 | 2492 | chr19 | TogoVar | |||||
PNO1_chr2_68152888_68181238 | 68156101 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0249a0001c0001t0001g0250others(5): Show | 9 | 444 | 0.0203 | -10 | c.-18 others(21): Show |
PNO1 | ENSG00000115946.8 | transcript | ENST00000263657.7 | protein_coding | 1786 | chr2 | TogoVar | ||||||
PNO1_chr2_68152888_68181238 | 68175654 | TTTGCAGT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(310): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0036others(216): Show | 313 | 444 | 0.7050 | -10 | c.*86 others(19): Show |
PNO1 | ENSG00000115946.8 | transcript | ENST00000263657.7 | protein_coding | 7/7 | 863 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PNOC_chr8_28312268_28348351 | 28320084 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0227others(1): Show | 4 | 424 | 0.0094 | -10 | c.-24 others(27): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNOC_chr8_28312268_28348351 | 28320088 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0355a0001c0001t0001g0356others(3): Show | 6 | 424 | 0.0142 | -10 | c.-24 others(27): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNOC_chr8_28312268_28348351 | 28320092 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(2): Show | 5 | 424 | 0.0118 | -10 | c.-24 others(27): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNOC_chr8_28312268_28348351 | 28334049 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03516.hp2 NA18612.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0054others(6): Show | 10 | 424 | 0.0236 | -10 | c.126 others(27): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36287036 | AACCTGGT others(3): Show |
A | intron_variant | MODIFIER | NA19054.hp1 | a0006 | a0006c0009 | a0006c0009t0008 | a0006c0009t0008g0177 | 1 | 386 | 0.0026 | -10 | c.206 others(27): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36287755 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02145.hp2 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0003a0003c0004a0004c0007others(2): Show | a0001c0003t0005a0001c0003t0013a0001c0003t0023others(7): Show | a0001c0003t0005g0008a0001c0003t0005g0009a0001c0003t0005g0015others(18): Show | 21 | 386 | 0.0544 | -10 | c.206 others(27): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36300178 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG03139.hp2 others(4): Show |
a0001a0003a0024 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0002g0030a0001c0001t0002g0052a0001c0003t0002g0303others(4): Show | 7 | 386 | 0.0181 | -10 | c.776 others(27): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA2_chr11_813914_830573 | 822305 | GGGCCCTT others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02109.hp1 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0012a0003c0006t0003g0044 | 7 | 442 | 0.0158 | -10 | c.487 others(23): Show |
PNPLA2 | ENSG00000177666.17 | transcript | ENST00000336615.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PNPLA4_chrX_7893247_7932413 | 7899626 | CGAGAGAG others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01123.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0040 | 2 | 338 | 0.0059 | -10 | c.*10 others(21): Show |
PNPLA4 | ENSG00000006757.12 | transcript | ENST00000381042.9 | protein_coding | 7/7 | 1050 | chrX | TogoVar | |||||
PNPLA5_chr22_43874678_43897013 | 43888371 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp1 NA18943.hp1 NA19000.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0003a0003c0002t0009 | a0001c0001t0001g0137a0003c0002t0003g0058a0003c0002t0009g0057 | 3 | 438 | 0.0069 | -10 | c.703 others(25): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
PNPLA5_chr22_43874678_43897013 | 43888426 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(234): Show |
a0002a0003a0007others(3): Show | a0002c0003a0002c0004a0002c0011others(9): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(23): Show | a0002c0003t0001g0006a0002c0003t0001g0015a0002c0003t0001g0166others(81): Show | 237 | 438 | 0.5411 | -10 | c.703 others(25): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
PNPLA6_chr19_7530717_7566764 | 7547811 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02965.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0197a0004c0008t0001g0346 | 2 | 416 | 0.0048 | -10 | c.160 others(29): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PNPLA6_chr19_7530717_7566764 | 7556053 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0353 | 1 | 416 | 0.0024 | -10 | c.309 others(27): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PNPLA6_chr19_7530717_7566764 | 7563497 | ATTATTAT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 416 | 0.0024 | -10 | c.*19 others(21): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 1734 | chr19 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137503891 | AGAAGAAG others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0017 | a0017c0029 | a0017c0029t0001 | a0017c0029t0001g0172 | 1 | 188 | 0.0053 | -10 | c.147 others(29): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137503901 | GGAAGAAG others(3): Show |
G | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 188 | 0.0053 | -10 | c.147 others(29): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137504075 | AGAAGAAG others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0168 | 1 | 188 | 0.0053 | -10 | c.147 others(29): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137504195 | GAGGAAGA others(3): Show |
G | intron_variant | MODIFIER | HG03831.hp1 NA18944.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0005 | a0002c0003t0001g0041a0002c0003t0005g0186 | 2 | 188 | 0.0106 | -10 | c.147 others(29): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108470384 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 390 | 0.0026 | -10 | c.*20 others(21): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 32 | chr7 | TogoVar |