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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXDC2_chr10_19811432_20294856 | 20020064 | CTGCTCAG others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01069.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(57): Show | a0001c0001t0001g0009a0001c0001t0001g0133a0001c0001t0001g0152others(69): Show | 72 | 180 | 0.4000 | -8 | c.324 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20031805 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02055.hp2 HG02723.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0094a0004c0004t0039a0004c0004t0040others(1): Show | a0001c0001t0094g0105a0004c0004t0039g0134a0004c0004t0040g0007others(1): Show | 4 | 180 | 0.0222 | -8 | c.325 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044211 | GTCTTTCT others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01167.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0015a0001c0001t0017a0001c0001t0045others(13): Show | a0001c0001t0015g0015a0001c0001t0017g0106a0001c0001t0045g0061others(13): Show | 16 | 180 | 0.0889 | -8 | c.325 others(25): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20072493 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017 | a0001c0001t0010g0013a0001c0001t0017g0106 | 2 | 180 | 0.0111 | -8 | c.541 others(25): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20089169 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01168.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0003g0123a0001c0001t0004g0096a0001c0001t0011g0145others(14): Show | 17 | 180 | 0.0944 | -8 | c.541 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20098349 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02280.hp1 HG02647.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0001c0001t0059a0001c0001t0088others(6): Show | a0001c0001t0031g0004a0001c0001t0059g0150a0001c0001t0088g0143others(6): Show | 9 | 180 | 0.0500 | -8 | c.541 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20146488 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01123.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(24): Show | a0001c0001t0003g0178a0001c0001t0004g0096a0001c0001t0004g0128others(27): Show | 30 | 180 | 0.1667 | -8 | c.665 others(25): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20158501 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01884.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(18): Show | a0001c0001t0001g0009a0001c0001t0001g0132a0001c0001t0001g0133others(21): Show | 24 | 180 | 0.1333 | -8 | c.784 others(25): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20162169 | AAAAGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0061others(1): Show | a0001c0001t0004g0107a0001c0001t0027g0158a0001c0001t0061g0030others(1): Show | 4 | 180 | 0.0222 | -8 | c.784 others(25): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20189476 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0088a0001c0001t0013g0089 | 2 | 180 | 0.0111 | -8 | c.106 others(29): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20194190 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0021others(7): Show | a0001c0001t0003g0027a0001c0001t0003g0123a0001c0001t0003g0163others(10): Show | 13 | 180 | 0.0722 | -8 | c.106 others(29): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20197357 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0061others(1): Show | a0001c0001t0004g0107a0001c0001t0027g0158a0001c0001t0061g0030others(1): Show | 4 | 180 | 0.0222 | -8 | c.106 others(29): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20255187 | GGATGGAT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02896.hp2 HG03491.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0001c0001t0115a0001c0001t0123others(1): Show | a0001c0001t0028g0155a0001c0001t0115g0072a0001c0001t0123g0046others(1): Show | 4 | 180 | 0.0222 | -8 | c.147 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20255191 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02486.hp2 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0063a0003c0003t0009a0003c0003t0080others(2): Show | a0002c0002t0063g0165a0003c0003t0009g0180a0003c0003t0080g0093others(2): Show | 5 | 180 | 0.0278 | -8 | c.147 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20270942 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0060a0001c0001t0061others(3): Show | a0001c0001t0047g0124a0001c0001t0060g0073a0001c0001t0061g0030others(3): Show | 6 | 180 | 0.0333 | -8 | c.147 others(27): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20289395 | GGTACTTC others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0072 | a0001c0001t0028g0155a0001c0001t0028g0161a0001c0001t0072g0062 | 3 | 180 | 0.0167 | -8 | c.*95 others(19): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 9579 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208017985 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG02074.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0009others(13): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0047others(23): Show | a0001c0001t0006g0097a0001c0001t0008g0171a0001c0001t0047g0253others(27): Show | 30 | 312 | 0.0962 | -8 | c.*92 others(19): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 4256 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208022027 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01978.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0009others(13): Show | a0001c0001t0005a0001c0001t0007a0001c0004t0038others(21): Show | a0001c0001t0005g0159a0001c0001t0007g0088a0001c0004t0038g0059others(21): Show | 24 | 312 | 0.0769 | -8 | c.*52 others(19): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 214 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208046797 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0009others(20): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0020others(50): Show | a0001c0001t0005g0120a0001c0001t0006g0097a0001c0001t0006g0099others(61): Show | 64 | 312 | 0.2051 | -8 | c.325 others(25): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 17/31 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208086990 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0009a0002c0002a0003c0010others(6): Show | a0001c0009t0006a0002c0002t0030a0003c0010t0070others(7): Show | a0001c0009t0006g0197a0001c0009t0006g0198a0002c0002t0030g0209others(8): Show | 11 | 312 | 0.0353 | -8 | c.209 others(27): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 9/31 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208098452 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00741.hp1 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0009a0002c0002a0002c0003others(8): Show | a0001c0009t0006a0002c0002t0030a0002c0003t0078others(8): Show | a0001c0009t0006g0197a0001c0009t0006g0198a0002c0002t0030g0209others(9): Show | 12 | 312 | 0.0385 | -8 | c.173 others(25): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 6/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132178845 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0002a0001c0029 | a0001c0001t0001a0001c0002t0004a0001c0029t0001 | a0001c0001t0001g0045a0001c0002t0004g0006a0001c0029t0001g0015 | 3 | 88 | 0.0341 | -8 | c.387 others(25): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132226596 | TTCTAGGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01361.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0029 | a0001c0001t0001a0001c0002t0004a0001c0029t0001 | a0001c0001t0001g0045a0001c0002t0004g0006a0001c0002t0004g0025others(1): Show | 4 | 88 | 0.0455 | -8 | c.188 others(25): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 7/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132384745 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0001t0003g0072a0001c0002t0003g0064a0001c0002t0004g0007others(9): Show | 12 | 88 | 0.1364 | -8 | c.137 others(29): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132474062 | CAAAACAA others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0003a0001c0002t0005a0001c0003t0002others(1): Show | a0001c0002t0003g0004a0001c0002t0005g0071a0001c0003t0002g0060others(1): Show | 4 | 88 | 0.0455 | -8 | c.137 others(29): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132474214 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0003t0002others(2): Show | a0001c0002t0003g0004a0001c0002t0005g0071a0001c0003t0002g0060others(2): Show | 5 | 88 | 0.0568 | -8 | c.137 others(29): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132493747 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(65): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0048others(65): Show | 68 | 88 | 0.7727 | -8 | c.118 others(27): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 2/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132518919 | GTCTGCCG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02809.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0013a0001c0008t0002a0001c0009t0001others(1): Show | a0001c0001t0013g0086a0001c0008t0002g0008a0001c0009t0001g0009others(1): Show | 4 | 88 | 0.0455 | -8 | c.-86 others(27): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132521177 | TGAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0028 | a0001c0001t0003a0001c0002t0003a0001c0028t0005 | a0001c0001t0003g0087a0001c0002t0003g0004a0001c0002t0003g0005others(1): Show | 4 | 88 | 0.0455 | -8 | c.-86 others(27): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94164661 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(83): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0021others(83): Show | 86 | 298 | 0.2886 | -8 | c.106 others(27): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94182857 | CTGTATCT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0017a0001c0004t0001others(3): Show | a0001c0001t0001g0008a0001c0003t0017g0156a0001c0004t0001g0243others(3): Show | 6 | 298 | 0.0201 | -8 | c.133 others(27): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94182859 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0004others(2): Show | a0001c0001t0001g0026a0001c0001t0004g0164a0001c0004t0004g0227others(2): Show | 5 | 298 | 0.0168 | -8 | c.133 others(27): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94201748 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(66): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(25): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0030others(66): Show | 69 | 298 | 0.2315 | -8 | c.144 others(27): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94219803 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02129.hp2 HG02155.hp2 HG02630.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(8): Show | a0001c0001t0001g0078a0001c0001t0001g0154a0001c0002t0001g0185others(14): Show | 17 | 298 | 0.0571 | -8 | c.155 others(25): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94274155 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01496.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0023others(1): Show | a0001c0001t0002a0001c0008t0002a0001c0008t0018others(2): Show | a0001c0001t0002g0118a0001c0008t0002g0036a0001c0008t0002g0124others(3): Show | 6 | 298 | 0.0201 | -8 | c.359 others(27): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PMEPA1_chr20_57643396_57715015 | 57683554 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | NA18950.hp2 NA18982.hp2 NA18990.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0319a0001c0002t0002g0320a0001c0002t0002g0321 | 3 | 360 | 0.0083 | -8 | c.110 others(27): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMF1_chr1_156208007_156245042 | 156216735 | GCTCCGTG others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 HG02647.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008a0002c0002t0001g0115a0002c0002t0001g0116others(2): Show | 6 | 364 | 0.0165 | -8 | c.161 others(25): Show |
PMF1 | ENSG00000160783.19 | transcript | ENST00000368277.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PMF1_chr1_156208007_156245042 | 156225282 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124a0002c0002t0001g0125a0002c0002t0001g0126others(11): Show | 14 | 364 | 0.0385 | -8 | c.162 others(25): Show |
PMF1 | ENSG00000160783.19 | transcript | ENST00000368277.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 74010185 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01167.hp1 others(19): Show |
a0001a0005a0008 | a0001c0001a0005c0019a0008c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0164others(15): Show | 22 | 342 | 0.0643 | -8 | c.602 others(27): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41572387 | CCCATCCA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01981.hp2 NA18943.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0067 | 3 | 330 | 0.0091 | -8 | c.*49 others(19): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4512 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41585463 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(61): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0011others(19): Show | 64 | 330 | 0.1939 | -8 | c.205 others(23): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41590602 | AAAGGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0011others(6): Show | 18 | 330 | 0.0546 | -8 | c.-80 others(17): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 763 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41591910 | AAACTAAC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0044others(3): Show | 8 | 330 | 0.0242 | -8 | c.-21 others(19): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 2071 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594334 | TGGGTGGG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0108a0001c0003t0001g0034 | 3 | 330 | 0.0091 | -8 | c.-45 others(19): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4495 | chr22 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8827719 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp1 HG03654.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0002g0261a0001c0001t0003g0362a0001c0001t0020g0222others(2): Show | 5 | 408 | 0.0123 | -8 | c.639 others(27): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMP22_chr17_15224779_15270326 | 15263583 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03139.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057a0001c0001t0006g0058a0001c0001t0006g0059 | 3 | 426 | 0.0070 | -8 | c.-35 others(25): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
PMP2_chr8_81435326_81452439 | 81441520 | CTCTATCT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0018a0001c0001t0035others(6): Show | a0001c0001t0017g0021a0001c0001t0017g0053a0001c0001t0018g0020others(10): Show | 24 | 428 | 0.0561 | -8 | c.*18 others(19): Show |
PMP2 | ENSG00000147588.7 | transcript | ENST00000256103.3 | protein_coding | 4/4 | 1870 | chr8 | TogoVar | ||||||
PMPCA_chr9_136405658_136428761 | 136421404 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02257.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0138others(9): Show | 23 | 390 | 0.0590 | -8 | c.126 others(25): Show |
PMPCA | ENSG00000165688.14 | transcript | ENST00000371717.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189792688 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02630.hp1 HG02886.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(7): Show | 10 | 234 | 0.0427 | -8 | c.132 others(23): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189860800 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02486.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0118others(18): Show | 21 | 234 | 0.0897 | -8 | c.185 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |