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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPA2_chr7_130261863_130294798 | 130292239 | A | ATTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01109.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0162a0001c0002t0001g0121a0001c0002t0001g0140others(3): Show | 7 | 400 | 0.0175 | 8 | c.*24 others(19): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 2442 | chr7 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01071.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0050others(8): Show | 13 | 400 | 0.0325 | 8 | c.*28 others(19): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPA4_chr7_130288161_130329180 | 130292239 | A | ATTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01109.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0003 | a0001c0001t0008a0001c0011t0017a0003c0003t0002others(1): Show | a0001c0001t0008g0205a0001c0011t0017g0018a0003c0003t0002g0046others(1): Show | 7 | 402 | 0.0174 | 8 | c.-94 others(17): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 921 | chr7 | TogoVar | ||||||
CPA5_chr7_130339816_130373730 | 130357952 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00741.hp1 others(44): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0166a0001c0001t0001g0179others(19): Show | 47 | 412 | 0.1141 | 8 | c.334 others(25): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA6_chr8_67417038_67751360 | 67446237 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01074.hp1 others(49): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(49): Show | 52 | 144 | 0.3611 | 8 | c.839 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67496519 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02055.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0022others(4): Show | 7 | 144 | 0.0486 | 8 | c.636 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67560160 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02129.hp1 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0064a0002c0002t0001g0038 | 3 | 144 | 0.0208 | 8 | c.193 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67637979 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02615.hp1 others(7): Show |
a0001a0006a0007 | a0001c0001a0006c0009a0007c0010 | a0001c0001t0001a0001c0001t0004a0006c0009t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0051others(7): Show | 10 | 144 | 0.0694 | 8 | c.117 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67642793 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0083a0001c0001t0001g0084others(1): Show | 4 | 144 | 0.0278 | 8 | c.117 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67673381 | T | TTATTATT others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0140a0002c0002t0001g0109 | 2 | 144 | 0.0139 | 8 | c.117 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67678225 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG02723.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0039others(13): Show | 16 | 144 | 0.1111 | 8 | c.117 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67711686 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | 144 | 0.0139 | 8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67711720 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02109.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119a0001c0001t0001g0143a0002c0002t0001g0109 | 3 | 144 | 0.0208 | 8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67713083 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02723.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0004g0094a0002c0002t0001g0019 | 3 | 144 | 0.0208 | 8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67713095 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 NA18998.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0070a0002c0002t0001g0092a0003c0003t0001g0047 | 3 | 144 | 0.0208 | 8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67713099 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG06807.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0128a0001c0001t0001g0129others(1): Show | 4 | 144 | 0.0278 | 8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16888396 | G | GTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02257.hp1 others(3): Show |
a0007a0030a0034others(2): Show | a0007c0016a0030c0167a0034c0071others(2): Show | a0007c0016t0001a0030c0167t0001a0034c0071t0001others(2): Show | a0007c0016t0001g0123a0007c0016t0001g0124a0030c0167t0001g0271others(3): Show | 6 | 278 | 0.0216 | 8 | c.*47 others(19): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4554 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16894921 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01361.hp1 others(17): Show |
a0001a0002a0008others(15): Show | a0001c0013a0002c0017a0008c0009others(15): Show | a0001c0013t0001a0002c0017t0001a0008c0009t0001others(15): Show | a0001c0013t0001g0090a0001c0013t0001g0138a0002c0017t0001g0112others(17): Show | 20 | 278 | 0.0719 | 8 | c.542 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 41/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16895927 | A | ACACACGC others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp1 others(4): Show |
a0008a0010a0015others(2): Show | a0008c0009a0010c0004a0015c0008others(3): Show | a0008c0009t0001a0010c0004t0001a0015c0008t0001others(3): Show | a0008c0009t0001g0247a0010c0004t0001g0088a0010c0004t0001g0089others(4): Show | 7 | 278 | 0.0252 | 8 | c.542 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 41/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16895927 | A | ACACGCGC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02015.hp2 HG02698.hp2 others(1): Show |
a0008a0010a0049others(1): Show | a0008c0009a0010c0004a0049c0154others(1): Show | a0008c0009t0001a0010c0004t0001a0049c0154t0001others(1): Show | a0008c0009t0001g0197a0010c0004t0001g0254a0049c0154t0001g0195others(1): Show | 4 | 278 | 0.0144 | 8 | c.542 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 41/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906337 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG02451.hp1 others(6): Show |
a0001a0003a0004others(4): Show | a0001c0007a0001c0033a0003c0002others(5): Show | a0001c0007t0002a0001c0033t0002a0003c0002t0002others(5): Show | a0001c0007t0002g0221a0001c0033t0002g0002a0003c0002t0002g0105others(6): Show | 9 | 278 | 0.0324 | 8 | c.402 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906407 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01978.hp2 HG03710.hp2 |
a0001a0003a0005 | a0001c0001a0003c0002a0005c0003 | a0001c0001t0002a0003c0002t0002a0005c0003t0002 | a0001c0001t0002g0199a0003c0002t0002g0196a0005c0003t0002g0166 | 3 | 278 | 0.0108 | 8 | c.402 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16937063 | G | GCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG02486.hp2 others(8): Show |
a0002a0017a0030others(8): Show | a0002c0056a0017c0147a0030c0167others(8): Show | a0002c0056t0001a0017c0147t0001a0030c0167t0001others(8): Show | a0002c0056t0001g0081a0017c0147t0001g0009a0030c0167t0001g0271others(8): Show | 11 | 278 | 0.0396 | 8 | c.284 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 23/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16979269 | G | GCCATCCA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02965.hp2 others(2): Show |
a0034a0042a0092others(2): Show | a0034c0070a0042c0174a0092c0173others(2): Show | a0034c0070t0002a0042c0174t0001a0092c0173t0001others(2): Show | a0034c0070t0002g0091a0042c0174t0001g0160a0092c0173t0001g0164others(2): Show | 5 | 278 | 0.0180 | 8 | c.158 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 14/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16979386 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001a0002a0004others(48): Show | a0001c0001a0001c0007a0001c0013others(72): Show | a0001c0001t0002a0001c0007t0002a0001c0013t0001others(72): Show | a0001c0001t0002g0048a0001c0001t0002g0147a0001c0001t0002g0158others(111): Show | 114 | 278 | 0.4101 | 8 | c.158 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 14/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 17018717 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG02572.hp2 others(5): Show |
a0002a0007a0016others(4): Show | a0002c0019a0007c0016a0016c0116others(4): Show | a0002c0019t0001a0007c0016t0001a0016c0116t0001others(4): Show | a0002c0019t0001g0008a0002c0019t0001g0139a0007c0016t0001g0123others(5): Show | 8 | 278 | 0.0288 | 8 | c.267 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 3/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 17031553 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01975.hp2 HG02145.hp1 others(1): Show |
a0006a0013a0020others(1): Show | a0006c0015a0013c0024a0020c0011others(1): Show | a0006c0015t0002a0013c0024t0002a0020c0011t0001others(1): Show | a0006c0015t0002g0110a0013c0024t0002g0178a0020c0011t0001g0017others(1): Show | 4 | 278 | 0.0144 | 8 | c.-49 others(19): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4744 | chr19 | TogoVar | ||||||
CPB1_chr3_148822811_148865187 | 148846779 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0206a0001c0001t0001g0238others(10): Show | 14 | 456 | 0.0307 | 8 | c.981 others(25): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB1_chr3_148822811_148865187 | 148846797 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02004.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0129others(5): Show | 9 | 456 | 0.0197 | 8 | c.981 others(25): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB1_chr3_148822811_148865187 | 148846797 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0070others(13): Show | 20 | 456 | 0.0439 | 8 | c.981 others(25): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB1_chr3_148822811_148865187 | 148846797 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0053a0001c0001t0001g0308others(1): Show | 5 | 456 | 0.0110 | 8 | c.981 others(25): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB1_chr3_148822811_148865187 | 148857060 | G | GTGTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01168.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0082a0001c0001t0001g0083others(14): Show | 18 | 456 | 0.0395 | 8 | c.982 others(23): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB2_chr13_46048186_46110033 | 46051996 | G | GAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(134): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0038others(112): Show | 137 | 330 | 0.4152 | 8 | c.*16 others(19): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 1189 | chr13 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46108157 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG04228.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0057a0001c0001t0001g0086a0003c0003t0003g0089 | 3 | 330 | 0.0091 | 8 | c.-31 others(19): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | ||||||
CPD_chr17_30373927_30474989 | 30394901 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048a0001c0001t0006g0049a0001c0001t0006g0053others(1): Show | 4 | 296 | 0.0135 | 8 | c.994 others(25): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPD_chr17_30373927_30474989 | 30449129 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18983.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0069a0001c0001t0001g0259 | 3 | 296 | 0.0101 | 8 | c.287 others(25): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPEB1_chr15_82538201_82652363 | 82542204 | C | CTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0014a0001c0001t0018others(2): Show | a0001c0001t0004g0086a0001c0001t0004g0202a0001c0001t0004g0203others(17): Show | 20 | 354 | 0.0565 | 8 | c.*23 others(19): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 996 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82574722 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01257.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0004g0086a0001c0001t0004g0089a0001c0001t0004g0091others(26): Show | 29 | 354 | 0.0819 | 8 | c.272 others(25): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82608025 | A | AGTATTCT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0227a0001c0001t0010g0228a0001c0001t0010g0229 | 3 | 354 | 0.0085 | 8 | c.271 others(27): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82608250 | T | TATTTAAT others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0115a0001c0001t0024g0116a0001c0001t0024g0117 | 3 | 354 | 0.0085 | 8 | c.271 others(27): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82610981 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0024 | a0001c0001t0010g0110a0001c0001t0010g0197a0001c0001t0010g0200others(6): Show | 9 | 354 | 0.0254 | 8 | c.271 others(27): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB2_chr4_14997481_15075151 | 15018969 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 HG03492.hp1 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0017a0004c0004t0006g0047 | 3 | 288 | 0.0104 | 8 | c.212 others(27): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92048383 | T | TCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0001t0026a0001c0002t0010others(1): Show | a0001c0001t0010g0110a0001c0001t0010g0118a0001c0001t0010g0119others(3): Show | 6 | 278 | 0.0216 | 8 | c.*38 others(19): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 10/10 | 3828 | chr10 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92048385 | T | TCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG02129.hp2 HG02300.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0012a0001c0001t0032others(3): Show | a0001c0001t0006g0222a0001c0001t0006g0226a0001c0001t0006g0227others(11): Show | 14 | 278 | 0.0504 | 8 | c.*38 others(19): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 10/10 | 3826 | chr10 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92048387 | T | TCTCACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02145.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0198a0001c0001t0015g0211a0001c0001t0015g0267 | 3 | 278 | 0.0108 | 8 | c.*38 others(19): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 10/10 | 3824 | chr10 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92058552 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01496.hp2 HG02258.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0223a0001c0001t0002g0237a0001c0001t0003g0115others(17): Show | 20 | 278 | 0.0719 | 8 | c.187 others(27): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92058592 | C | CATACATA others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0002t0007 | a0001c0001t0007g0150a0001c0001t0007g0152a0001c0001t0007g0208others(2): Show | 5 | 278 | 0.0180 | 8 | c.187 others(27): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92195046 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01346.hp2 HG01433.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0005g0246others(12): Show | 15 | 278 | 0.0540 | 8 | c.100 others(27): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92258625 | A | AACTAATA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG03225.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0002t0002others(3): Show | a0001c0001t0005g0259a0001c0001t0011g0272a0001c0002t0002g0041others(4): Show | 7 | 278 | 0.0252 | 8 | c.-11 others(27): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173892274 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0180a0001c0001t0002g0181a0001c0001t0002g0182others(74): Show | 86 | 372 | 0.2312 | 8 | c.112 others(27): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |