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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK1_chr11_77317017_77479094 | 77324766 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0106others(69): Show | 72 | 302 | 0.2384 | -12 | c.155 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77324776 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0302 | 1 | 302 | 0.0033 | -12 | c.155 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77324780 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0231a0001c0001t0007g0232a0001c0001t0007g0233 | 3 | 302 | 0.0099 | -12 | c.155 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77369264 | AATTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 302 | 0.0033 | -12 | c.477 others(29): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 5/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77381138 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 302 | 0.0033 | -12 | c.191 others(29): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77429056 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0169 | 2 | 302 | 0.0066 | -12 | c.-21 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77429083 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 302 | 0.0033 | -12 | c.-21 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77449260 | GCCCACAC others(5): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 302 | 0.0033 | -12 | c.-22 others(31): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196735294 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0054 | a0001c0001t0022g0162a0001c0001t0054g0161 | 2 | 178 | 0.0112 | -12 | c.-48 others(23): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4562 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196748561 | CGTAGTTG others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0004 | 2 | 178 | 0.0112 | -12 | c.-22 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196759498 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0022 | a0001c0001t0007g0132a0001c0001t0022g0162 | 2 | 178 | 0.0112 | -12 | c.-22 others(31): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196769816 | CAAAAAAG others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(21): Show | a0001c0001t0002g0070a0001c0001t0002g0079a0001c0001t0002g0080others(51): Show | 54 | 178 | 0.3034 | -12 | c.-21 others(31): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833438 | GAAAAAAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0053a0001c0001t0055 | a0001c0001t0014g0176a0001c0001t0014g0177a0001c0001t0053g0006others(1): Show | 4 | 178 | 0.0225 | -12 | c.*50 others(23): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 792 | chr3 | TogoVar | ||||||
PAK3_chrX_111091191_111232361 | 111219190 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0016a0001c0001t0008g0165a0001c0001t0011g0035others(2): Show | 5 | 195 | 0.0256 | -12 | c.154 others(31): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39121485 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001a0007a0009 | a0001c0001a0001c0007a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0002g0279a0001c0001t0002g0280a0001c0001t0002g0282others(82): Show | 86 | 368 | 0.2337 | -12 | c.-45 others(23): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 4300 | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39143592 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060a0001c0001t0001g0082a0001c0001t0001g0083others(5): Show | 8 | 368 | 0.0217 | -12 | c.-96 others(31): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39144166 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0233 | 1 | 368 | 0.0027 | -12 | c.-96 others(31): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39174051 | CCCCTCCC others(5): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0005 | 1 | 368 | 0.0027 | -12 | c.109 others(27): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9558007 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0063 | 1 | 208 | 0.0048 | -12 | c.161 others(29): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 6/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9602291 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp2 others(72): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(26): Show | a0001c0002t0002g0001a0001c0002t0002g0083a0001c0002t0002g0084others(72): Show | 75 | 208 | 0.3606 | -12 | c.205 others(31): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 3/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9620941 | CAGAGAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG03139.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0008 | a0001c0002t0002g0198a0001c0005t0008g0200 | 2 | 208 | 0.0096 | -12 | c.204 others(31): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 3/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9733387 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0198a0001c0002t0004g0188 | 2 | 208 | 0.0096 | -12 | c.-16 others(33): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40276749 | CGTGTGTG others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0141 | 1 | 426 | 0.0024 | -12 | c.*68 others(21): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 11/11 | 684 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
PALB2_chr16_23598165_23646310 | 23611113 | TATCTATC others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0022a0004c0004t0001g0291 | 3 | 326 | 0.0092 | -12 | c.320 others(31): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23634639 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(81): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0019a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(76): Show | 84 | 326 | 0.2577 | -12 | c.168 others(29): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645043 | GTACTGGG others(5): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 326 | 0.0031 | -12 | c.-38 others(23): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3734 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645083 | CTATATAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 HG02622.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0170others(1): Show | 4 | 326 | 0.0123 | -12 | c.-39 others(23): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3774 | chr16 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70507750 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01109.hp2 others(30): Show |
a0001a0002a0018 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0004a0001c0006t0008a0001c0007t0001others(8): Show | a0001c0001t0004g0081a0001c0006t0008g0129a0001c0007t0001g0007others(30): Show | 33 | 308 | 0.1071 | -12 | c.-29 others(31): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168499261 | AGGGAGGG others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01109.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0017others(18): Show | 21 | 156 | 0.1346 | -12 | c.-83 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168539568 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01071.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(30): Show | a0001c0001t0003g0016a0001c0001t0003g0067a0001c0001t0005g0091others(43): Show | 46 | 156 | 0.2949 | -12 | c.908 others(31): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168541443 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03942.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0001c0001t0008a0002c0015t0003 | a0001c0001t0001g0013a0001c0001t0008g0053a0002c0015t0003g0058 | 3 | 156 | 0.0192 | -12 | c.908 others(31): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709507 | CAAGGAAG others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0060a0001c0001t0005g0091 | 2 | 156 | 0.0128 | -12 | c.162 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168746380 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG06807.hp1 NA18906.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0004 | a0001c0001t0003g0156a0003c0008t0004g0023 | 2 | 156 | 0.0128 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168761641 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 156 | 0.0064 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168783046 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA19043.hp2 |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0018a0003c0008t0004 | a0001c0004t0018g0021a0003c0008t0004g0047 | 2 | 156 | 0.0128 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168785058 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0047 | 1 | 156 | 0.0064 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168785844 | GAGATATA others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0109 | 1 | 156 | 0.0064 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168785846 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0021 | 1 | 156 | 0.0064 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168811768 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp2 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0019 | a0001c0001t0001g0017a0002c0012t0019g0141 | 2 | 156 | 0.0128 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168816817 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01071.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0017a0001c0001t0003g0016a0001c0001t0003g0156others(20): Show | 23 | 156 | 0.1474 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168854161 | GTCATTCA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00735.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0089a0001c0001t0003g0009a0001c0001t0003g0067others(67): Show | 70 | 156 | 0.4487 | -12 | c.196 others(33): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168922098 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0114 | 1 | 156 | 0.0064 | -12 | c.305 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168922100 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0012a0002c0003t0012 | a0001c0001t0012g0065a0002c0003t0012g0034 | 2 | 156 | 0.0128 | -12 | c.305 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168922102 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp2 HG01175.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0007a0004c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0001others(2): Show | a0001c0001t0001g0068a0001c0001t0001g0077a0001c0001t0002g0117others(3): Show | 6 | 156 | 0.0385 | -12 | c.305 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109782740 | TTGTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0219 | 1 | 222 | 0.0045 | -12 | c.45+ others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109867164 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA19060.hp1 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0124a0002c0002t0003g0125 | 2 | 222 | 0.0090 | -12 | c.46- others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109881876 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp2 |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0001a0002c0004t0001 | a0001c0007t0001g0166a0002c0004t0001g0153 | 2 | 222 | 0.0090 | -12 | c.257 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109929863 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00609.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0041others(29): Show | 32 | 222 | 0.1441 | -12 | c.395 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109971283 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 222 | 0.0045 | -12 | c.496 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110006324 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0144a0002c0004t0002g0155 | 2 | 222 | 0.0090 | -12 | c.497 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |