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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAFAH1B2_chr11_117139287_117176045 | 117172378 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0034 others(13): Show |
18 | 418 | 0.0431 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1334 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172380 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp2 NA18964.hp1 NA18997.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0011 a0001c0001t0001g0148 a0001c0001t0001g0178 others(1): Show |
4 | 415 | 0.0096 | -32 | c.*46 others(43): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1336 | chr11 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70488873 | TCTGCTGC others(25): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0196 | 1 | 300 | 0.0033 | -32 | c.-30 others(49): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110035502 | TGATATGT others(25): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 216 | 0.0046 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110035573 | TTGTGTTA others(25): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00738.hp1 others(130): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(38): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0031 others(130): Show |
133 | 206 | 0.6456 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110035788 | GGATATGT others(25): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03486.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0008a0006c0009t0014 | a0001c0001t0008g0049 a0006c0009t0014g0217 |
2 | 148 | 0.0135 | -32 | c.582 others(51): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683076 | GAGAGAGA others(25): Show |
G | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 373 | 0.0027 | -32 | c.252 others(49): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24581244 | CGTGTGTG others(25): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0290 | 1 | 23 | 0.0435 | -32 | c.-3+ others(47): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102803142 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 166 | 0.0060 | -32 | c.-37 others(53): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102803177 | GGAAGGAA others(25): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 186 | 0.0054 | -32 | c.-37 others(53): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0093 a0001c0001t0003g0125 a0001c0001t0003g0126 others(7): Show |
10 | 28 | 0.3571 | -32 | c.210 others(51): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73258720 | CTACTGCA others(25): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0211 | 1 | 416 | 0.0024 | -32 | c.162 others(49): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87701307 | CCTTCCTT others(25): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0314 a0001c0001t0026g0315 |
2 | 369 | 0.0054 | -32 | c.28- others(47): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87701319 | CCTTCCTT others(25): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0103 | 1 | 309 | 0.0032 | -32 | c.28- others(47): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87740263 | TTGATGAG others(25): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(74): Show |
a0001a0007a0008 | a0001c0001a0007c0008a0008c0009 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0037 others(74): Show |
77 | 370 | 0.2081 | -32 | c.108 others(49): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0042 a0001c0001t0001g0193 a0001c0001t0001g0246 others(1): Show |
4 | 209 | 0.0191 | -32 | c.-27 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | CTCTTTCT others(25): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0244 a0001c0003t0003g0243 |
2 | 171 | 0.0117 | -32 | c.-27 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355312 | CTTTCTTT others(25): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0085 others(26): Show |
29 | 282 | 0.1028 | -32 | c.-11 others(51): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0020 | a0001c0003t0003g0243 a0001c0003t0020g0222 |
2 | 29 | 0.0690 | -32 | c.180 others(49): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142965191 | ATTTACTT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 1 | 444 | 0.0023 | -32 | c.-18 others(43): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 1518 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204553665 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0045 | 1 | 54 | 0.0185 | -32 | c.120 others(49): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204883405 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG02965.hp2 |
a0002a0011 | a0002c0008a0002c0016a0011c0027 | a0002c0008t0004a0002c0016t0002a0011c0027t0015 | a0002c0008t0004g0028 a0002c0016t0002g0037 a0011c0027t0015g0003 |
3 | 53 | 0.0566 | -32 | c.223 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204998330 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 |
a0004a0011 | a0004c0012a0011c0027 | a0004c0012t0003a0011c0027t0015 | a0004c0012t0003g0004 a0011c0027t0015g0003 |
2 | 53 | 0.0377 | -32 | c.394 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205036339 | ATATATGT others(25): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0026 | a0004c0026t0004 | a0004c0026t0004g0041 | 1 | 54 | 0.0185 | -32 | c.395 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205493713 | CATTTATG others(25): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0013 | 1 | 23 | 0.0435 | -32 | c.304 others(51): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605824 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0042 | 1 | 68 | 0.0147 | -32 | c.223 others(51): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80208023 | GGTATCAA others(25): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 379 | 0.0026 | -32 | c.73- others(47): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14435896 | TCACACAC others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0110 | 1 | 37 | 0.0270 | -32 | c.*78 others(41): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 24/24 | 789 | chr16 | TogoVar | ||||||
PARP9_chr3_122522924_122569300 | 122539507 | ATTTCTTT others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
a0001a0003a0007others(2): Show | a0001c0002a0001c0003a0003c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(164): Show |
222 | 292 | 0.7603 | -32 | c.176 others(49): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44122524 | GAGACAGA others(25): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0104 | 1 | 330 | 0.0030 | -32 | c.376 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44162347 | AGTGTTGC others(25): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0070 others(52): Show |
55 | 330 | 0.1667 | -32 | c.946 others(49): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653747 | CTTCCTTC others(25): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0022a0002c0004a0002c0008others(2): Show | a0001c0022t0001a0002c0004t0003a0002c0008t0002others(2): Show | a0001c0022t0001g0046 a0002c0004t0003g0023 a0002c0004t0003g0119 others(4): Show |
7 | 189 | 0.0370 | -32 | c.717 others(49): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241108646 | CCACGGGA others(25): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02630.hp1 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0029 a0007c0010t0001g0235 a0007c0010t0001g0236 others(1): Show |
5 | 374 | 0.0134 | -32 | c.353 others(49): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 15/17 | chr2 | TogoVar | |||||||
PATE4_chr11_125828316_125845072 | 125843547 | ACATTATT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -32 | c.*51 others(43): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 3476 | chr11 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61796658 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(28): Show |
a0005a0006a0008others(13): Show | a0005c0072a0006c0016a0006c0017others(23): Show | a0005c0072t0024a0006c0016t0001a0006c0017t0001others(24): Show | a0005c0072t0024g0095 a0006c0016t0001g0153 a0006c0017t0001g0029 others(28): Show |
31 | 148 | 0.2095 | -32 | c.126 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61813352 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0013a0021 | a0013c0004a0021c0033 | a0013c0004t0002a0021c0033t0003 | a0013c0004t0002g0075 a0021c0033t0003g0080 |
2 | 156 | 0.0128 | -32 | c.168 others(51): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613963 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0004 | a0003c0004t0022 | a0003c0004t0022g0165 | 1 | 253 | 0.0040 | -32 | c.649 others(47): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613965 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 250 | 0.0040 | -32 | c.649 others(47): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632296 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0048 a0001c0001t0016g0013 |
2 | 167 | 0.0120 | -32 | c.517 others(51): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX4_chr7_127605292_127623142 | 127612371 | GTGCATGG others(25): Show |
G | intron_variant | MODIFIER | NA18992.hp1 NA19000.hp2 NA19002.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0021 | 4 | 426 | 0.0094 | -32 | c.716 others(47): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
PAX9_chr14_36656860_36684362 | 36662128 | AAGGGAGG others(25): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0296 a0001c0001t0015g0295 |
2 | 444 | 0.0045 | -32 | c.4+5 others(41): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771917 | AGAGAGAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0122 |
2 | 358 | 0.0056 | -32 | c.-28 others(41): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 163 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771941 | AGAGAGAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 358 | 0.0028 | -32 | c.-30 others(41): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 187 | chr21 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125899249 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 291 | 0.0034 | -32 | c.275 others(51): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125899298 | AATATACA others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01109.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0244 a0001c0001t0001g0255 others(26): Show |
31 | 239 | 0.1297 | -32 | c.275 others(51): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP2_chr12_53447102_53486162 | 53456837 | CATCAGTT others(25): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 346 | 0.0029 | -32 | c.243 others(47): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45931909 | AAACACCC others(25): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01934.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0205 a0001c0001t0002g0054 a0001c0001t0002g0055 others(1): Show |
4 | 290 | 0.0138 | -32 | c.856 others(49): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45932493 | GGGCCATG others(25): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0232 |
3 | 290 | 0.0103 | -32 | c.856 others(49): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45933178 | TTGAGATG others(25): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0232 |
3 | 290 | 0.0103 | -32 | c.857 others(49): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100298656 | CTCCCTCC others(25): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 others(5): Show |
8 | 152 | 0.0526 | -32 | c.106 others(51): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |