view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPEF1_chrX_18702645_18832917 | 18743440 | CTTTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 224 | 0.0045 | -8 | c.236 others(25): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18809091 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0019a0001c0001t0001g0077a0001c0001t0001g0078others(5): Show | 8 | 224 | 0.0357 | -8 | c.139 others(27): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18811587 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0017others(3): Show | 6 | 224 | 0.0268 | -8 | c.139 others(27): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18811609 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01261.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0025others(17): Show | 20 | 224 | 0.0893 | -8 | c.139 others(27): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18817068 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01106.hp1 others(35): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(35): Show | 38 | 224 | 0.1696 | -8 | c.139 others(25): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18830893 | GAAAAAAA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0021a0001c0001t0001g0074a0001c0001t0001g0078others(8): Show | 11 | 224 | 0.0491 | -8 | c.*34 others(19): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 2977 | chrX | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75856846 | GTATATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | 270 | 0.0296 | -8 | c.*38 others(19): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 3020 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75856882 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01167.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0015others(1): Show | 5 | 270 | 0.0185 | -8 | c.*37 others(19): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75874123 | CAAACAAA others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0106a0001c0001t0001g0110a0001c0001t0001g0186others(1): Show | 4 | 270 | 0.0148 | -8 | c.132 others(25): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75877006 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01891.hp2 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0002c0008others(8): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0003others(11): Show | a0001c0001t0001g0169a0002c0004t0001g0095a0002c0004t0003g0041others(32): Show | 35 | 270 | 0.1296 | -8 | c.934 others(23): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70267554 | GAGGAAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01943.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0003 | a0001c0001t0015g0176a0001c0003t0003g0011a0001c0003t0003g0019others(6): Show | 9 | 282 | 0.0319 | -8 | c.-33 others(19): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 3135 | chr11 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70267586 | GAGGAAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0012t0002a0002c0002t0002 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(4): Show | 7 | 282 | 0.0248 | -8 | c.-33 others(19): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 3103 | chr11 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70279722 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02074.hp2 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0003a0001c0005t0003a0002c0002t0001others(1): Show | a0001c0003t0003g0036a0001c0005t0003g0168a0002c0002t0001g0082others(7): Show | 10 | 282 | 0.0355 | -8 | c.264 others(25): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81294439 | TAGGAAGG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00735.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(57): Show | 60 | 168 | 0.3571 | -8 | c.292 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 24/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81362005 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02080.hp2 HG02129.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0032a0001c0001t0001g0092a0001c0001t0001g0101others(19): Show | 22 | 168 | 0.1310 | -8 | c.163 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 15/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81365962 | ATCCCTCC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0095others(20): Show | 23 | 168 | 0.1369 | -8 | c.154 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 14/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81365984 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02148.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0086a0001c0002t0001g0103a0001c0002t0002g0080others(1): Show | 4 | 168 | 0.0238 | -8 | c.154 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 14/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81380962 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01169.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0062a0001c0001t0001g0065others(15): Show | 18 | 168 | 0.1071 | -8 | c.984 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 9/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81386275 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | 168 | 0.3274 | -8 | c.763 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 8/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81426663 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0112a0001c0001t0001g0119a0001c0001t0001g0123others(5): Show | 8 | 168 | 0.0476 | -8 | c.645 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81436279 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01981.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0107a0001c0001t0001g0108others(8): Show | 11 | 168 | 0.0655 | -8 | c.645 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81442848 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02148.hp2 HG02717.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0001 | a0001c0001t0002g0043a0001c0002t0001g0089a0001c0002t0001g0103others(1): Show | 4 | 168 | 0.0238 | -8 | c.570 others(25): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 6/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81458353 | TACAAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0110a0001c0002t0001g0030a0001c0002t0001g0072others(14): Show | 17 | 168 | 0.1012 | -8 | c.304 others(23): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81471107 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0050a0001c0001t0001g0073others(48): Show | 51 | 168 | 0.3036 | -8 | c.304 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81493750 | GTGTCTAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0143 | 2 | 168 | 0.0119 | -8 | c.304 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81533692 | AATCTATC others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071a0001c0001t0002g0043 | 2 | 168 | 0.0119 | -8 | c.304 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81533731 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02148.hp1 HG02683.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0118a0001c0001t0002g0082a0001c0002t0001g0055others(4): Show | 7 | 168 | 0.0417 | -8 | c.304 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81581727 | AAAACGAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0092others(46): Show | 49 | 168 | 0.2917 | -8 | c.303 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81637236 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 HG01496.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0087a0001c0001t0001g0116others(11): Show | 14 | 168 | 0.0833 | -8 | c.303 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81642762 | GTATATGT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG02083.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101a0001c0001t0001g0142a0001c0001t0002g0094 | 3 | 168 | 0.0179 | -8 | c.303 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81743411 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0101a0001c0001t0001g0107a0001c0001t0001g0108others(4): Show | 7 | 168 | 0.0417 | -8 | c.249 others(27): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 3/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81762269 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01981.hp1 HG02148.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0002t0001g0103 | 3 | 168 | 0.0179 | -8 | c.-31 others(19): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 2920 | chr12 | TogoVar | |||||||
PPFIA4_chr1_203021491_203083736 | 203078752 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(45): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0003others(4): Show | a0001c0001t0001g0182a0001c0001t0003g0035a0001c0004t0003g0016others(41): Show | 48 | 418 | 0.1148 | -8 | c.*23 others(19): Show |
PPFIA4 | ENSG00000143847.16 | transcript | ENST00000295706.9 | protein_coding | 17 | chr1 | TogoVar | |||||||
PPFIBP1_chr12_27519206_27700564 | 27678856 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02818.hp1 others(8): Show |
a0001a0010a0014 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0060a0001c0002t0005g0297others(8): Show | 11 | 314 | 0.0350 | -8 | c.161 others(25): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPFIBP2_chr11_7508999_7658756 | 7562929 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02738.hp2 NA18612.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0122a0001c0001t0016g0149others(2): Show | 5 | 318 | 0.0157 | -8 | c.65- others(23): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIBP2_chr11_7508999_7658756 | 7606886 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0041others(33): Show | 37 | 318 | 0.1164 | -8 | c.487 others(25): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIBP2_chr11_7508999_7658756 | 7645026 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(48): Show | 53 | 318 | 0.1667 | -8 | c.164 others(27): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42378086 | CTTTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01099.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0085a0001c0001t0002g0089a0001c0001t0002g0091others(14): Show | 17 | 376 | 0.0452 | -8 | c.511 others(25): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42378090 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(127): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(127): Show | 130 | 376 | 0.3457 | -8 | c.511 others(25): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42413526 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(53): Show | 56 | 376 | 0.1489 | -8 | c.909 others(27): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42418211 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01070.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0107a0001c0001t0001g0117a0001c0001t0001g0118others(23): Show | 26 | 376 | 0.0692 | -8 | c.909 others(27): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42425038 | TTATGTAT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG02129.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0133a0001c0001t0002g0205a0001c0001t0002g0206others(11): Show | 14 | 376 | 0.0372 | -8 | c.910 others(27): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42426172 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02004.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0010a0001c0001t0001g0042a0001c0001t0001g0052others(10): Show | 13 | 376 | 0.0346 | -8 | c.910 others(27): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583467 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02071.hp2 HG02083.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 8 | 448 | 0.0179 | -8 | c.-43 others(17): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 380 | chr1 | TogoVar | |||||||
PPIAL4C_chr1_149578848_149589607 | 149583523 | AAAGAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01123.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 22 | 448 | 0.0491 | -8 | c.-37 others(17): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 324 | chr1 | TogoVar | |||||||
PPIAL4C_chr1_149578848_149589607 | 149583527 | AAAAGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 13 | 448 | 0.0290 | -8 | c.-37 others(17): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 320 | chr1 | TogoVar | |||||||
PPIAL4D_chr1_145236415_145247174 | 145242426 | ATTTCTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01515.hp1 NA18612.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 396 | 0.0177 | -8 | c.-31 others(17): Show |
PPIAL4D | ENSG00000289549.1 | transcript | ENST00000544708.3 | protein_coding | 253 | chr1 | TogoVar | |||||||
PPIAL4E_chr1_144367875_144378634 | 144373886 | ATTTCTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18949.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002 | a0001c0003t0002g0000a0002c0002t0002g0000 | 3 | 202 | 0.0149 | -8 | c.-31 others(17): Show |
PPIAL4E | ENSG00000271567.2 | transcript | ENST00000581164.2 | protein_coding | 253 | chr1 | TogoVar | |||||||
PPIAL4F_chr1_144587893_144598652 | 144592578 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18964.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 2 | 220 | 0.0091 | -8 | c.-36 others(17): Show |
PPIAL4F | ENSG00000279782.3 | transcript | ENST00000581138.4 | protein_coding | 314 | chr1 | TogoVar | |||||||
PPIAL4G_chr1_148477548_148488302 | 148483555 | ATTTCTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 17 | 450 | 0.0378 | -8 | c.-31 others(17): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 254 | chr1 | TogoVar |