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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0138 others(30): Show |
33 | 119 | 0.2773 | 9 | c.773 others(24): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811248 | C | CTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 |
3 | 174 | 0.0172 | 9 | c.773 others(24): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833458 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0048 a0001c0001t0031g0050 |
2 | 150 | 0.0133 | 9 | c.*50 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 812 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833460 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0140 a0001c0002t0010g0105 |
2 | 138 | 0.0145 | 9 | c.*50 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 814 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833462 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0036 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | 118 | 0.0169 | 9 | c.*50 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 816 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833470 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 a0001c0001t0004g0037 |
2 | 36 | 0.0556 | 9 | c.*50 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 824 | chr3 | TogoVar | |||||||
PAK3_chrX_111091191_111232361 | 111122427 | C | CCAACATT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 NA18612.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0083 others(7): Show |
10 | 193 | 0.0518 | 9 | c.-27 others(24): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PAK3_chrX_111091191_111232361 | 111219190 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0074 a0001c0001t0001g0084 others(8): Show |
11 | 54 | 0.2037 | 9 | c.154 others(28): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39148466 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(76): Show |
a0001 | a0001c0001a0001c0018a0001c0021 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(75): Show |
79 | 83 | 0.9518 | 9 | c.-95 others(28): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39165192 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02738.hp1 HG03041.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0251 a0001c0001t0002g0307 a0001c0001t0002g0348 others(6): Show |
9 | 137 | 0.0657 | 9 | c.-95 others(26): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39165554 | A | ATAAATAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(39): Show |
a0001a0007 | a0001c0001a0001c0007a0007c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0002g0312 others(39): Show |
42 | 296 | 0.1419 | 9 | c.-95 others(26): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9665085 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02602.hp2 HG02735.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0025others(4): Show | a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0108 others(8): Show |
11 | 55 | 0.2000 | 9 | c.-11 others(28): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9717084 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001a0003a0007 | a0001c0002a0001c0009a0003c0003others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0009t0006others(2): Show | a0001c0002t0006g0009 a0001c0002t0006g0132 a0001c0002t0007g0203 others(3): Show |
6 | 177 | 0.0339 | 9 | c.-16 others(28): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9771582 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(56): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(20): Show | a0001c0002t0002g0019 a0001c0002t0002g0040 a0001c0002t0002g0050 others(56): Show |
59 | 116 | 0.5086 | 9 | c.-16 others(30): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9807762 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01099.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0017others(11): Show | a0001c0002t0002g0040 a0001c0002t0002g0133 a0001c0002t0007g0055 others(18): Show |
21 | 81 | 0.2593 | 9 | c.-16 others(30): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0014others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0002g0127 a0001c0001t0002g0180 a0001c0001t0002g0184 others(83): Show |
88 | 105 | 0.8381 | 9 | c.187 others(26): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40275282 | T | TTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02257.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(2): Show | a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0005g0320 others(3): Show |
6 | 423 | 0.0142 | 9 | c.187 others(26): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40281980 | T | TGGCCGCG others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0023a0001c0002t0078a0001c0011t0038others(2): Show | a0001c0001t0023g0383 a0001c0002t0078g0399 a0001c0011t0038g0096 others(2): Show |
5 | 424 | 0.0118 | 9 | c.*58 others(20): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 4494 | chr15 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70557930 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01981.hp2 others(12): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0136 others(12): Show |
15 | 101 | 0.1485 | 9 | c.226 others(28): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168520347 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00642.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0058 others(25): Show |
28 | 71 | 0.3944 | 9 | c.908 others(26): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168530728 | A | ACATCACA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp1 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0078 others(60): Show |
63 | 154 | 0.4091 | 9 | c.908 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168746380 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp2 HG03130.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0012others(1): Show | a0001c0001t0002a0001c0001t0020a0002c0003t0005others(3): Show | a0001c0001t0002g0127 a0001c0001t0020g0098 a0002c0003t0005g0122 others(3): Show |
6 | 41 | 0.1463 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759179 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01346.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0012others(3): Show | a0001c0001t0004a0001c0001t0021a0002c0003t0005others(4): Show | a0001c0001t0004g0003 a0001c0001t0004g0081 a0001c0001t0021g0141 others(5): Show |
8 | 109 | 0.0734 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168761645 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01261.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0010others(1): Show | a0001c0001t0001g0013 a0001c0001t0005g0154 a0001c0002t0010g0135 others(2): Show |
5 | 13 | 0.3846 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168774727 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0002g0103 others(24): Show |
27 | 82 | 0.3293 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109813413 | T | TCCAGAGG others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0065 others(28): Show |
31 | 220 | 0.1409 | 9 | c.45+ others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 109865096 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG01516.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0029others(5): Show | a0001c0001t0005g0107 a0001c0001t0010g0017 a0001c0001t0010g0018 others(7): Show |
10 | 67 | 0.1493 | 9 | c.46- others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG02080.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0003others(2): Show | a0001c0001t0001g0080 a0001c0001t0010g0019 a0002c0002t0003g0206 others(3): Show |
6 | 177 | 0.0339 | 9 | c.497 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110038935 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01361.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0158 others(31): Show |
34 | 102 | 0.3333 | 9 | c.582 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0007t0001a0001c0007t0032 | a0001c0001t0008g0215 a0001c0007t0001g0035 a0001c0007t0001g0039 others(5): Show |
8 | 136 | 0.0588 | 9 | c.583 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM3_chr19_14048367_14067076 | 14051432 | C | CCGCTGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0008 | a0001c0001t0002a0003c0002t0002a0006c0008t0002 | a0001c0001t0002g0017 a0001c0001t0002g0031 a0003c0002t0002g0016 others(1): Show |
13 | 436 | 0.0298 | 9 | c.*21 others(20): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 1934 | chr19 | TogoVar | |||||||
PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0002g0051 a0001c0001t0004g0278 a0001c0002t0002g0001 others(98): Show |
102 | 222 | 0.4595 | 9 | c.367 others(26): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24573297 | T | TGGAGGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG02280.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0014a0001c0001t0023a0001c0002t0013others(6): Show | a0001c0001t0014g0196 a0001c0001t0014g0199 a0001c0001t0023g0171 others(10): Show |
13 | 116 | 0.1121 | 9 | c.-29 others(18): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 154 | chr7 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102751914 | G | GGCAGCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0025 others(97): Show |
101 | 186 | 0.5430 | 9 | c.-38 others(20): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3390 | chr5 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102801772 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18945.hp1 NA18950.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(6): Show |
9 | 109 | 0.0826 | 9 | c.-37 others(30): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAN2_chr12_56311936_56339000 | 56312222 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 a0001c0003t0003g0010 a0001c0003t0003g0154 others(3): Show |
7 | 25 | 0.2800 | 9 | c.*53 others(20): Show |
PAN2 | ENSG00000135473.16 | transcript | ENST00000440411.8 | protein_coding | 4713 | chr12 | TogoVar | |||||||
PAN3_chr13_28133545_28300335 | 28138603 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(124): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 others(124): Show |
127 | 249 | 0.5100 | 9 | c.-53 others(16): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/19 | 52 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28141003 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0182 others(11): Show |
14 | 187 | 0.0749 | 9 | c.430 others(26): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28295010 | G | GGATATAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01069.hp2 others(69): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 others(69): Show |
72 | 250 | 0.2880 | 9 | c.*24 others(20): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 19/19 | 2498 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PANK1_chr10_89577988_89650242 | 89595720 | T | TGAGGTGC others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0019 others(89): Show |
109 | 364 | 0.2995 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0007others(1): Show | a0001c0001t0001g0012 a0001c0002t0002g0253 a0001c0002t0002g0254 others(2): Show |
6 | 161 | 0.0373 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02698.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0070 a0001c0001t0001g0083 others(2): Show |
6 | 161 | 0.0373 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89631976 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0160 others(53): Show |
66 | 129 | 0.5116 | 9 | c.292 others(28): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565885 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0014 a0001c0001t0013g0116 a0001c0001t0013g0117 others(2): Show |
7 | 379 | 0.0185 | 9 | c.635 others(24): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569028 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03704.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0045 | a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0072 others(2): Show |
5 | 340 | 0.0147 | 9 | c.29- others(20): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0098 others(19): Show |
28 | 58 | 0.4828 | 9 | c.29- others(24): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK4_chr1_2503537_2531596 | 2510396 | T | TCCGATCG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(167): Show |
a0001a0006a0007 | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0061 others(76): Show |
170 | 398 | 0.4271 | 9 | c.193 others(26): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 16/18 | chr1 | TogoVar | |||||||
PAPLN_chr14_73232506_73279623 | 73257753 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01928.hp1 HG01981.hp2 others(17): Show |
a0001a0003a0006others(1): Show | a0001c0004a0003c0002a0003c0012others(3): Show | a0001c0004t0001a0003c0002t0001a0003c0002t0010others(4): Show | a0001c0004t0001g0065 a0003c0002t0001g0015 a0003c0002t0001g0016 others(16): Show |
20 | 137 | 0.1460 | 9 | c.162 others(28): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73258618 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01243.hp2 others(20): Show |
a0001a0003a0005others(3): Show | a0001c0004a0001c0011a0003c0002others(4): Show | a0001c0004t0001a0001c0011t0002a0003c0002t0010others(5): Show | a0001c0004t0001g0088 a0001c0004t0001g0096 a0001c0011t0002g0231 others(20): Show |
23 | 157 | 0.1465 | 9 | c.162 others(26): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623807 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02717.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0002g0010 others(2): Show |
5 | 100 | 0.0500 | 9 | c.199 others(30): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |