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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALM2AKAP2_chr9_109775198_110177512 | 110012295 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0007a0001c0007t0001 | a0001c0001t0001g0202a0001c0006t0007g0187a0001c0007t0001g0166 | 3 | 222 | 0.0135 | -12 | c.497 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014801 | AAAATGTA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp2 |
a0002a0005 | a0002c0004a0005c0008 | a0002c0004t0034a0005c0008t0026 | a0002c0004t0034g0032a0005c0008t0026g0205 | 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 | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014803 | AATGTATA others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 222 | 0.0045 | -12 | c.497 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110032691 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0041a0001c0001t0001g0075a0001c0001t0001g0143others(45): Show | 48 | 222 | 0.2162 | -12 | c.582 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110044107 | CTCATTGT others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0174 | 1 | 222 | 0.0045 | -12 | c.582 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110060093 | ATTTTGTT others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(13): Show | a0001c0001t0001g0075a0001c0001t0001g0141a0001c0001t0001g0161others(33): Show | 36 | 222 | 0.1622 | -12 | c.582 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110096928 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01192.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0034a0001c0001t0001g0101a0001c0001t0001g0143others(38): Show | 41 | 222 | 0.1847 | -12 | c.583 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110110542 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 222 | 0.0045 | -12 | c.583 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110111696 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(106): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0041a0001c0001t0001g0061others(106): Show | 109 | 222 | 0.4910 | -12 | c.583 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110132032 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02717.hp2 others(7): Show |
a0001a0006a0008 | a0001c0006a0006c0009a0006c0013others(1): Show | a0001c0006t0002a0001c0006t0007a0001c0006t0024others(3): Show | a0001c0006t0002g0198a0001c0006t0007g0120a0001c0006t0007g0171others(7): Show | 10 | 222 | 0.0451 | -12 | c.583 others(29): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110165284 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03579.hp1 |
a0001a0006 | a0001c0006a0006c0013 | a0001c0006t0028a0006c0013t0001 | a0001c0006t0028g0196a0006c0013t0001g0157 | 2 | 222 | 0.0090 | -12 | c.321 others(31): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALMD_chr1_99641113_99699535 | 99650285 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(94): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0025others(91): Show | 97 | 380 | 0.2553 | -12 | c.45+ others(27): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALMD_chr1_99641113_99699535 | 99655938 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 380 | 0.0026 | -12 | c.46- others(27): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALMD_chr1_99641113_99699535 | 99683088 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01975.hp2 HG02155.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0084a0001c0001t0001g0090others(2): Show | 5 | 380 | 0.0132 | -12 | c.252 others(29): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALM_chr19_703935_753329 | 708856 | AGGGGAGC others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0001 | 1 | 404 | 0.0025 | -12 | c.-29 others(21): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 78 | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 738424 | CCTTAGGC others(5): Show |
C | intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0185 | 1 | 404 | 0.0025 | -12 | c.503 others(29): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 7/8 | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 750188 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0008a0001c0003t0002a0001c0003t0006others(3): Show | a0001c0002t0008g0371a0001c0003t0002g0043a0001c0003t0006g0034others(10): Show | 13 | 404 | 0.0322 | -12 | c.*33 others(23): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 1860 | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 750387 | ACGGGGTT others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0085 | 1 | 404 | 0.0025 | -12 | c.*35 others(23): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 2059 | chr19 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67257653 | ATATGTAT others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0283 | 1 | 290 | 0.0035 | -12 | c.-23 others(33): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67280792 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 290 | 0.0035 | -12 | c.367 others(29): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67280845 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021others(4): Show | 7 | 290 | 0.0241 | -12 | c.367 others(29): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67316398 | TTGGAATT others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG02071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0177a0001c0001t0005g0178a0001c0001t0005g0179others(8): Show | 11 | 290 | 0.0379 | -12 | c.122 others(29): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67329835 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 290 | 0.0035 | -12 | c.185 others(31): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24573297 | TGGAGGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(46): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(15): Show | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0116others(46): Show | 49 | 378 | 0.1296 | -12 | c.-29 others(21): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 154 | chr7 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24581244 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(27): Show | a0001c0001t0002g0092a0001c0001t0002g0113a0001c0001t0002g0114others(73): Show | 78 | 378 | 0.2064 | -12 | c.-3+ others(27): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24691405 | GTATATAT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01257.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0042a0001c0002t0045 | a0001c0002t0042g0335a0001c0002t0042g0366a0001c0002t0045g0357others(1): Show | 4 | 378 | 0.0106 | -12 | c.*38 others(23): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 12/12 | 3820 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
PAMR1_chr11_35426827_35530616 | 35433761 | TGGATGGA others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00738.hp2 others(16): Show |
a0001a0016 | a0001c0003a0016c0021 | a0001c0003t0002a0016c0021t0002 | a0001c0003t0002g0007a0001c0003t0002g0013a0001c0003t0002g0032others(16): Show | 19 | 378 | 0.0503 | -12 | c.162 others(29): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 10/10 | chr11 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35512616 | ACTTCTTA others(5): Show |
A | intron_variant | MODIFIER | HG03704.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0128a0001c0001t0003g0138 | 2 | 378 | 0.0053 | -12 | c.73+ others(29): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102758068 | ATTTTGTT others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0002g0112others(3): Show | 6 | 188 | 0.0319 | -12 | c.-37 others(31): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102780749 | CTTTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG03098.hp1 HG03540.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0113a0001c0001t0003g0114a0001c0001t0007g0021others(4): Show | 7 | 188 | 0.0372 | -12 | c.-37 others(33): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102780753 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00642.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0059a0001c0001t0001g0082others(28): Show | 31 | 188 | 0.1649 | -12 | c.-37 others(33): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102803146 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01515.hp1 HG01928.hp1 others(13): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0059a0001c0001t0001g0065a0001c0001t0001g0070others(13): Show | 16 | 188 | 0.0851 | -12 | c.-37 others(33): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102836859 | CGAGAGAG others(5): Show |
C | intron_variant | MODIFIER | NA18964.hp2 NA18981.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0020others(2): Show | 5 | 188 | 0.0266 | -12 | c.-37 others(33): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102841406 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0160 | 1 | 188 | 0.0053 | -12 | c.-37 others(33): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102881890 | CATCCTCA others(5): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0134 | 1 | 188 | 0.0053 | -12 | c.210 others(31): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01934.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0150a0001c0001t0002g0058others(9): Show | 12 | 188 | 0.0638 | -12 | c.210 others(31): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102922816 | CAGTGATA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0035a0001c0001t0002g0036a0001c0002t0002g0141 | 3 | 188 | 0.0160 | -12 | c.357 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102940139 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 188 | 0.0053 | -12 | c.527 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102954496 | TACTTAAT others(5): Show |
T | intron_variant | MODIFIER | NA18957.hp2 NA19064.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0095a0001c0002t0004g0134 | 2 | 188 | 0.0106 | -12 | c.905 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102977658 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0002g0056a0001c0001t0002g0186a0001c0001t0002g0187others(7): Show | 10 | 188 | 0.0532 | -12 | c.148 others(31): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAN2_chr12_56311936_56339000 | 56312222 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 336 | 0.0030 | -12 | c.*53 others(23): Show |
PAN2 | ENSG00000135473.16 | transcript | ENST00000440411.8 | protein_coding | 4713 | chr12 | TogoVar | ||||||
PAN2_chr12_56311936_56339000 | 56330353 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01070.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(21): Show | 52 | 336 | 0.1548 | -12 | c.283 others(29): Show |
PAN2 | ENSG00000135473.16 | transcript | ENST00000440411.8 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28134690 | TGCTGTCA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0001t0025a0001c0001t0026others(1): Show | a0001c0001t0017g0204a0001c0001t0025g0203a0001c0001t0026g0239others(1): Show | 4 | 252 | 0.0159 | -12 | c.-39 others(23): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 3854 | chr13 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28144718 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0057a0001c0001t0006g0137 | 2 | 252 | 0.0079 | -12 | c.430 others(29): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PANK1_chr10_89577988_89650242 | 89595833 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 | 1 | 366 | 0.0027 | -12 | c.900 others(29): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89641732 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01070.hp1 others(27): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0001g0219others(26): Show | 30 | 366 | 0.0820 | -12 | c.292 others(29): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
PANK2_chr20_3884387_3934887 | 3902972 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0328 | 1 | 422 | 0.0024 | -12 | c.299 others(29): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3913604 | GGATTACA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0052a0001c0001t0080others(3): Show | a0001c0001t0003g0309a0001c0001t0052g0120a0001c0001t0080g0073others(3): Show | 6 | 422 | 0.0142 | -12 | c.108 others(29): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3928747 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(9): Show | a0001c0001t0002g0217a0001c0001t0009g0174a0001c0001t0009g0347others(45): Show | 51 | 422 | 0.1209 | -12 | c.*54 others(23): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 7/7 | 5474 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
PANK2_chr20_3884387_3934887 | 3928768 | AAAAAAAA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0088 | a0002c0002t0088g0108 | 1 | 422 | 0.0024 | -12 | c.*54 others(23): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 7/7 | 5475 | chr20 | TogoVar |