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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P3R3URF_chr1_46170486_46181488 | 46175558 | AAGCTTCT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 422 | 0.0024 | -12 | c.*16 others(19): Show |
P3R3URF | ENSG00000250719.2 | transcript | ENST00000506599.2 | protein_coding | 2/2 | 16 | chr1 | TogoVar | |||||
P4HA1_chr10_73002217_73101866 | 73006205 | TAAAAAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0087 | 1 | 234 | 0.0043 | -12 | c.*20 others(23): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1011 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037525 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG02647.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0015others(2): Show | 5 | 234 | 0.0214 | -12 | c.114 others(31): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037561 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0013 | a0001c0001t0002g0022a0001c0002t0013g0078 | 2 | 234 | 0.0086 | -12 | c.114 others(31): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037565 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0062 | 1 | 234 | 0.0043 | -12 | c.114 others(31): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73059424 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01258.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162 | 2 | 234 | 0.0086 | -12 | c.464 others(29): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 5/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73093869 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0078 | 1 | 234 | 0.0043 | -12 | c.-33 others(29): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73101696 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 234 | 0.0043 | -12 | c.-49 others(23): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4831 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73101698 | AAAAAATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048a0001c0001t0002g0050 | 2 | 234 | 0.0086 | -12 | c.-49 others(23): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4833 | chr10 | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132192925 | TAGGAACA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0320a0001c0001t0015g0326a0001c0001t0015g0327 | 3 | 426 | 0.0070 | -12 | c.*73 others(19): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 15/15 | 73 | chr5 | TogoVar | |||||
P4HA2_chr5_132185147_132232853 | 132197608 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0070a0001c0001t0019g0071 | 2 | 426 | 0.0047 | -12 | c.136 others(29): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 12/14 | chr5 | TogoVar | ||||||
P4HA3_chr11_74261657_74316640 | 74285689 | ATTCTGAA others(5): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA18964.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0202a0001c0001t0001g0221others(1): Show | 4 | 398 | 0.0101 | -12 | c.111 others(29): Show |
P4HA3 | ENSG00000149380.12 | transcript | ENST00000331597.9 | protein_coding | 7/12 | chr11 | TogoVar | ||||||
PA2G4_chr12_56099559_56118910 | 56116166 | AAAAGAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(9): Show | 44 | 352 | 0.1250 | -12 | c.*32 others(23): Show |
PA2G4 | ENSG00000170515.14 | transcript | ENST00000303305.11 | protein_coding | 2257 | chr12 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73880687 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 370 | 0.0027 | -12 | c.88+ others(27): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73898238 | GGGAGAGG others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115 | 3 | 370 | 0.0081 | -12 | c.283 others(27): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73913692 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 370 | 0.0027 | -12 | c.728 others(27): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73930762 | AATATGTA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0005 | 1 | 370 | 0.0027 | -12 | c.*34 others(23): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 12/12 | 3417 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
PABPC1L2A_chrX_73072276_73084512 | 73079456 | AGCCGCCA others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0000 | 1 | 274 | 0.0037 | -12 | c.-82 others(19): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 1/1 | 71 | chrX | TogoVar | |||||
PABPC1L2B_chrX_72997939_73011106 | 73007780 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(7): Show | 59 | 294 | 0.2007 | -12 | c.*35 others(23): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1675 | chrX | TogoVar | ||||||
PABPC1L_chr20_44905060_44944316 | 44911135 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0215a0001c0001t0002g0214a0001c0001t0002g0216others(7): Show | 15 | 396 | 0.0379 | -12 | c.193 others(27): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PABPC1_chr8_100697916_100727088 | 100715122 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 416 | 0.0024 | -12 | c.643 others(27): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
PABPC1_chr8_100697916_100727088 | 100715148 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 416 | 0.0024 | -12 | c.643 others(27): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
PABPN1_chr14_23316457_23331163 | 23328990 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02809.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001a0001c0001t0003g0027 | 3 | 428 | 0.0070 | -12 | c.*37 others(23): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 2828 | chr14 | TogoVar | ||||||
PACC1_chr1_212358928_212419886 | 212363028 | CTTTATTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02135.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042a0001c0001t0003g0045a0001c0001t0003g0057 | 3 | 374 | 0.0080 | -12 | c.*21 others(23): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 899 | chr1 | TogoVar | ||||||
PACC1_chr1_212358928_212419886 | 212381695 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0275a0001c0003t0001g0276a0001c0003t0001g0277 | 3 | 374 | 0.0080 | -12 | c.496 others(29): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
PACC1_chr1_212358928_212419886 | 212396796 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(116): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0092others(106): Show | 119 | 374 | 0.3182 | -12 | c.134 others(29): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
PACRGL_chr4_20695458_20737557 | 20726660 | CTTGGGAC others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147a0001c0001t0004g0156 | 2 | 412 | 0.0049 | -12 | c.691 others(27): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747359 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0051 | 2 | 130 | 0.0154 | -12 | c.156 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162785168 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0009a0001c0001t0006g0011a0001c0001t0006g0012others(1): Show | 4 | 130 | 0.0308 | -12 | c.157 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162787574 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0003g0015 | 2 | 130 | 0.0154 | -12 | c.157 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162787576 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 130 | 0.0077 | -12 | c.157 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162853357 | CCTGGTTG others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(8): Show | 11 | 130 | 0.0846 | -12 | c.291 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162941036 | GTGTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00741.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0026others(37): Show | 40 | 130 | 0.3077 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162947573 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0103a0001c0001t0003g0068 | 2 | 130 | 0.0154 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162947637 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0117a0001c0001t0002g0054a0001c0001t0003g0068 | 3 | 130 | 0.0231 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958874 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 130 | 0.0077 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958876 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0005a0001c0004t0003g0045 | 2 | 130 | 0.0154 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958878 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 130 | 0.0077 | -12 | c.292 others(33): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163036857 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(44): Show | 47 | 130 | 0.3615 | -12 | c.292 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163055328 | GTGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01346.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0001g0033others(24): Show | 27 | 130 | 0.2077 | -12 | c.292 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163269931 | CAAAGAAA others(5): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 130 | 0.0077 | -12 | c.614 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290276 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0125 | 1 | 130 | 0.0077 | -12 | c.614 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290278 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 130 | 0.0077 | -12 | c.614 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163293503 | TGCTGACC others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 130 | 0.0077 | -12 | c.614 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163319487 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0029a0001c0001t0002g0051a0001c0001t0002g0096others(4): Show | 7 | 130 | 0.0539 | -12 | c.*45 others(23): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 3988 | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163319533 | TATATACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 130 | 0.0077 | -12 | c.*45 others(23): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4034 | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66156204 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02300.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0266a0001c0001t0001g0290 | 3 | 322 | 0.0093 | -12 | c.357 others(31): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66202742 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02027.hp2 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0060a0001c0001t0001g0068others(8): Show | 11 | 322 | 0.0342 | -12 | c.445 others(29): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66215902 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 322 | 0.0031 | -12 | c.661 others(27): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS2_chr14_105309748_105403147 | 105393581 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0055 | a0002c0002t0055g0180 | 1 | 210 | 0.0048 | -12 | c.259 others(29): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |