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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NXN_chr17_794310_984776 | 878480 | GTGGGGGC others(30): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp1 HG03704.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0053a0001c0001t0002g0056a0001c0001t0002g0072others(4): Show | 7 | 242 | 0.0289 | -37 | c.361 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948187 | CATTGTAT others(30): Show |
C | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 242 | 0.0041 | -37 | c.360 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948839 | CCCCCCTG others(30): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0025a0001c0001t0033g0241 | 2 | 242 | 0.0083 | -37 | c.360 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949225 | CCTCCTCC others(30): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 242 | 0.0041 | -37 | c.360 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949279 | CTGCCTCC others(30): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 242 | 0.0041 | -37 | c.360 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949293 | CCCCGCTG others(30): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0194a0001c0001t0003g0038 | 2 | 242 | 0.0083 | -37 | c.360 others(56): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXPH4_chr12_57211794_57231449 | 57215282 | GTTCTGGC others(30): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -37 | c.-16 others(48): Show |
NXPH4 | ENSG00000182379.10 | transcript | ENST00000349394.6 | protein_coding | 1511 | chr12 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225538773 | TTTTCTTT others(30): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001a0003 | a0001c0003a0003c0016 | a0001c0003t0005a0003c0016t0030 | a0001c0003t0005g0190a0003c0016t0030g0003 | 2 | 192 | 0.0104 | -37 | c.523 others(56): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OASL_chr12_121014111_121044246 | 121037026 | TCACTTAT others(30): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 390 | 0.0026 | -37 | c.198 others(54): Show |
OASL | ENSG00000135114.14 | transcript | ENST00000257570.10 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
ODAD3_chr19_11415605_11440121 | 11429961 | CTGAATAG others(30): Show |
C | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 398 | 0.0025 | -37 | c.444 others(52): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 3/12 | chr19 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128466997 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0185 | 1 | 346 | 0.0029 | -37 | c.499 others(54): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OGFOD3_chr17_82384210_82423586 | 82388839 | GGAGCCCC others(30): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0003g0016a0001c0001t0003g0177a0001c0001t0003g0190others(50): Show | 55 | 348 | 0.1581 | -37 | c.*35 others(48): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 370 | chr17 | TogoVar | ||||||
OIT3_chr10_72888739_72938036 | 72898090 | CTGGGCAA others(30): Show |
C | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 276 | 0.0036 | -37 | c.62- others(50): Show |
OIT3 | ENSG00000138315.13 | transcript | ENST00000334011.10 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174250474 | GGCTTTTC others(30): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0124 | 1 | 262 | 0.0038 | -37 | c.-20 others(48): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 1943 | chr2 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135120909 | TCTAAAAA others(30): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0194 | 1 | 360 | 0.0028 | -37 | c.*73 others(46): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 6/6 | 732 | chr9 | TogoVar | |||||
OOSP2_chr11_60035409_60053044 | 60048665 | TTTTTTTT others(30): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0002others(33): Show | 67 | 198 | 0.3384 | -37 | c.*15 others(48): Show |
OOSP2 | ENSG00000149507.7 | transcript | ENST00000278855.7 | protein_coding | 622 | chr11 | TogoVar | ||||||
OPA3_chr19_45541281_45589802 | 45577182 | CATCATCG others(30): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0339 | 1 | 398 | 0.0025 | -37 | c.142 others(54): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
OPLAH_chr8_144046266_144065692 | 144060558 | GGCCCGGG others(30): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 318 | 0.0094 | -37 | c.-54 others(50): Show |
OPLAH | ENSG00000178814.17 | transcript | ENST00000618853.5 | protein_coding | 1/26 | chr8 | TogoVar | ||||||
OR10A4_chr11_6871625_6882619 | 6880324 | AAAGATAG others(30): Show |
A | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | -37 | c.*27 others(48): Show |
OR10A4 | ENSG00000170782.3 | transcript | ENST00000379829.2 | protein_coding | 2706 | chr11 | TogoVar | ||||||
OR10G4_chr11_124007997_124023732 | 124022594 | AACCTGGT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 438 | 0.0023 | -37 | c.*60 others(48): Show |
OR10G4 | ENSG00000254737.3 | transcript | ENST00000641722.1 | protein_coding | 3863 | chr11 | TogoVar | ||||||
OR10G9_chr11_124018013_124028948 | 124022594 | AACCTGGT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 1 | 442 | 0.0023 | -37 | c.-41 others(46): Show |
OR10G9 | ENSG00000236981.1 | transcript | ENST00000375024.1 | protein_coding | 418 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779194 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 468 | 0.0021 | -37 | c.-42 others(48): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3825 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779196 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 468 | 0.0021 | -37 | c.-42 others(48): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3823 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779198 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042a0001c0001t0043others(2): Show | a0001c0001t0001g0003a0001c0001t0042g0003a0001c0001t0043g0003others(2): Show | 11 | 468 | 0.0235 | -37 | c.-42 others(48): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3821 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779200 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 NA18968.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018 | a0001c0001t0001g0003a0001c0001t0009g0003a0001c0001t0018g0003 | 5 | 468 | 0.0107 | -37 | c.-42 others(48): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3819 | chr11 | TogoVar | ||||||
OR2AG2_chr11_6760626_6776976 | 6774939 | TGTGTGTG others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 466 | 0.0022 | -37 | c.-38 others(48): Show |
OR2AG2 | ENSG00000188124.4 | transcript | ENST00000641124.1 | protein_coding | 2964 | chr11 | TogoVar | ||||||
OR4F5_chr1_60419_76585 | 66238 | TATTATAT others(30): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01109.hp2 others(53): Show |
a0002a0004a0008others(2): Show | a0002c0002a0004c0003a0008c0017others(2): Show | a0002c0002t0002a0002c0002t0013a0004c0003t0002others(6): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0013g0042others(11): Show | 56 | 215 | 0.2605 | -37 | c.9+7 others(48): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR5K1_chr3_98458201_98477924 | 98475817 | CTTTTCCT others(30): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 438 | 0.0023 | -37 | c.*53 others(48): Show |
OR5K1 | ENSG00000232382.2 | transcript | ENST00000642057.1 | protein_coding | 2894 | chr3 | TogoVar | ||||||
OR6C75_chr12_55357975_55374279 | 55369691 | ATTCATAT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0040 | 1 | 454 | 0.0022 | -37 | c.*36 others(48): Show |
OR6C75 | ENSG00000187857.5 | transcript | ENST00000641576.1 | protein_coding | 413 | chr12 | TogoVar | ||||||
OR7D4_chr19_9205276_9224589 | 9218205 | AAAATAGA others(30): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 | 1 | 432 | 0.0023 | -37 | c.-14 others(52): Show |
OR7D4 | ENSG00000174667.4 | transcript | ENST00000641669.1 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037679 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0171a0001c0001t0001g0231a0001c0002t0001g0220others(1): Show | 4 | 324 | 0.0124 | -37 | c.-93 others(56): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58037681 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 324 | 0.0031 | -37 | c.-93 others(56): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ORC6_chr16_46684659_46703394 | 46685524 | CACAAACA others(30): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0091 | 1 | 368 | 0.0027 | -37 | c.-41 others(48): Show |
ORC6 | ENSG00000091651.9 | transcript | ENST00000219097.7 | protein_coding | 4134 | chr16 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31783798 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA18941.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0003a0001c0002t0006a0001c0009t0005 | a0001c0001t0003g0163a0001c0002t0006g0181a0001c0009t0005g0170 | 3 | 186 | 0.0161 | -37 | c.730 others(56): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31783812 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 186 | 0.0054 | -37 | c.730 others(56): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSGEP_chr14_20441401_20459812 | 20455172 | CGCCTCTG others(30): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 460 | 0.0022 | -37 | c.-52 others(46): Show |
OSGEP | ENSG00000092094.11 | transcript | ENST00000206542.9 | protein_coding | 361 | chr14 | TogoVar | ||||||
OTOGL_chr12_80094537_80385880 | 80345081 | ATTATATG others(30): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00639.hp2 others(27): Show |
a0004a0005a0011others(3): Show | a0004c0004a0004c0039a0005c0005others(5): Show | a0004c0004t0003a0004c0039t0003a0005c0005t0003others(6): Show | a0004c0004t0003g0050a0004c0004t0003g0070a0004c0004t0003g0093others(27): Show | 30 | 168 | 0.1786 | -37 | c.526 others(56): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 44/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OTOG_chr11_17542259_17651044 | 17613170 | TTTTCTTT others(30): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02976.hp1 others(3): Show |
a0007a0027a0091others(2): Show | a0007c0114a0027c0027a0091c0077others(2): Show | a0007c0114t0002a0027c0027t0002a0091c0077t0001others(2): Show | a0007c0114t0002g0011a0027c0027t0002g0091a0027c0027t0002g0092others(3): Show | 6 | 268 | 0.0224 | -37 | c.643 others(54): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31511212 | AACACACA others(30): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0118a0001c0001t0004g0138 | 2 | 244 | 0.0082 | -37 | c.894 others(54): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106405165 | TATATATA others(30): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01346.hp1 HG02165.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0048a0001c0001t0001g0068others(8): Show | 11 | 172 | 0.0640 | -37 | c.23+ others(54): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
OXT_chr20_3066620_3077517 | 3073205 | ATGACATG others(30): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 462 | 0.0022 | -37 | c.*78 others(46): Show |
OXT | ENSG00000101405.3 | transcript | ENST00000217386.2 | protein_coding | 689 | chr20 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189966086 | GAAAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0127a0001c0002t0002g0043a0001c0002t0002g0066others(9): Show | 12 | 304 | 0.0395 | -37 | c.189 others(56): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037539 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 234 | 0.0043 | -37 | c.114 others(56): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73897626 | TGGCGGCC others(30): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02738.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0034 | a0001c0001t0001g0143a0001c0001t0013g0257a0001c0001t0013g0259others(2): Show | 5 | 370 | 0.0135 | -37 | c.283 others(54): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS2_chr14_105309748_105403147 | 105349823 | AAGAACTT others(30): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02615.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0049a0002c0005t0002others(1): Show | a0002c0002t0002g0003a0002c0002t0002g0176a0002c0002t0049g0177others(2): Show | 6 | 210 | 0.0286 | -37 | c.207 others(54): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PADI4_chr1_17303197_17369004 | 17352102 | GGTAGGAG others(30): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0346 | 1 | 372 | 0.0027 | -37 | c.115 others(56): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAFAH1B2_chr11_117139287_117176045 | 117172368 | ATATATAT others(30): Show |
A | downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 432 | 0.0023 | -37 | c.*46 others(48): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1324 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172382 | ATATATAT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0205 | 1 | 432 | 0.0023 | -37 | c.*46 others(48): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1338 | chr11 | TogoVar | ||||||
PAG1_chr8_80962810_81117068 | 81064653 | CTCTAGTG others(30): Show |
C | intron_variant | MODIFIER | HG01884.hp1 NA19030.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0077a0001c0002t0033 | a0001c0001t0077g0254a0001c0002t0033g0253a0001c0002t0033g0255 | 3 | 256 | 0.0117 | -37 | c.-17 others(56): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689904 | ATGTGTAT others(30): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01069.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(29): Show | 36 | 322 | 0.1118 | -37 | c.293 others(52): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar |