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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEH1L_chr18_12943011_12992531 | 12958064 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 388 | 0.0026 | -19 | c.309 others(36): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SEL1L3_chr4_25742433_25867988 | 25860586 | AAATGTGG others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 | 1 | 312 | 0.0032 | -19 | c.162 others(36): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 1/23 | chr4 | TogoVar | ||||||
SEL1L_chr14_81466547_81538853 | 81504902 | TAAGTTTC others(12): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0309 | 1 | 360 | 0.0028 | -19 | c.509 others(34): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 4/20 | chr14 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26348996 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0005g0023a0001c0001t0005g0254a0001c0001t0005g0255others(40): Show | 44 | 334 | 0.1317 | -19 | c.57+ others(34): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SELENOO_chr22_50196011_50222616 | 50216947 | CTCCAGAG others(12): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 438 | 0.0023 | -19 | c.168 others(31): Show |
p.Arg others(5): Show |
SELENOO | ENSG00000073169.15 | transcript | ENST00000380903.7 | protein_coding | 8/9 | 1689/2010 | 563/669 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SEMA3A_chr7_83950777_84199789 | 83965643 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 276 | 0.0036 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 83965645 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0227 | 1 | 276 | 0.0036 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 83965647 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0007a0001c0008t0008 | a0001c0001t0007g0092a0001c0008t0008g0085 | 2 | 276 | 0.0073 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 83965650 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0188 | 1 | 276 | 0.0036 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 83965654 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008a0001c0001t0004g0073a0001c0001t0004g0218others(2): Show | 5 | 276 | 0.0181 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 83965656 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 276 | 0.0036 | -19 | c.171 others(38): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84138003 | ATAATGTA others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01106.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0064others(46): Show | 49 | 276 | 0.1775 | -19 | c.113 others(36): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80868654 | TTTCTCTA others(12): Show |
T | intron_variant | MODIFIER | NA18986.hp2 NA18995.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0180a0001c0006t0001g0201 | 2 | 244 | 0.0082 | -19 | c.104 others(38): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
SEMA3D_chr7_84990553_85192056 | 85058614 | GGCGGGCG others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0028a0002c0003t0013 | a0001c0001t0001g0009a0001c0001t0001g0072a0001c0001t0001g0107others(2): Show | 5 | 266 | 0.0188 | -19 | c.719 others(36): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 8/18 | chr7 | TogoVar | ||||||
SEMA3D_chr7_84990553_85192056 | 85146267 | ATCCTTAG others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0114 | 1 | 266 | 0.0038 | -19 | c.-41 others(36): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83363860 | ATTTTTTT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03471.hp2 NA18939.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0067a0001c0001t0078a0002c0004t0074others(1): Show | a0001c0001t0067g0066a0001c0001t0078g0170a0002c0004t0074g0162others(1): Show | 4 | 226 | 0.0177 | -19 | c.*37 others(30): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 17/17 | 3707 | chr7 | TogoVar | |||||
SEMA4B_chr15_90196330_90234660 | 90212126 | TCACTTCC others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(12): Show | a0001c0003a0001c0005a0001c0006others(41): Show | a0001c0003t0001a0001c0005t0003a0001c0005t0011others(59): Show | a0001c0003t0001g0002a0001c0003t0001g0004a0001c0003t0001g0014others(236): Show | 353 | 420 | 0.8405 | -19 | c.158 others(36): Show |
SEMA4B | ENSG00000185033.15 | transcript | ENST00000411539.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SEMA4D_chr9_89372235_89503113 | 89428576 | TGGAGCCT others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(215): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0039others(215): Show | 218 | 370 | 0.5892 | -19 | c.-24 others(40): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | ||||||
SEMA5A_chr5_9030033_9551075 | 9131640 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0024 | 1 | 134 | 0.0075 | -19 | c.159 others(38): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | ||||||
SEMA5A_chr5_9030033_9551075 | 9207896 | GATACATA others(12): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0007a0001c0010a0001c0017 | a0001c0007t0025a0001c0010t0075a0001c0017t0074 | a0001c0007t0025g0062a0001c0010t0075g0107a0001c0017t0074g0105 | 3 | 134 | 0.0224 | -19 | c.647 others(36): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 8/22 | chr5 | TogoVar | ||||||
SEMA5A_chr5_9030033_9551075 | 9372432 | ACCATGGG others(12): Show |
A | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 134 | 0.0075 | -19 | c.124 others(36): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
SEMA5B_chr3_122904082_123032763 | 122983716 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00621.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0019a0002c0002t0001others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0086a0001c0001t0001g0102others(15): Show | 18 | 290 | 0.0621 | -19 | c.-38 others(38): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
SEMA6C_chr1_151126707_151151631 | 151141981 | TAGTGAGC others(12): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0034 | 2 | 338 | 0.0059 | -19 | c.118 others(34): Show |
SEMA6C | ENSG00000143434.17 | transcript | ENST00000368914.8 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185608808 | ATAAGGAC others(12): Show |
A | intron_variant | MODIFIER | NA18948.hp1 NA18962.hp2 |
a0002 | a0002c0002 | a0002c0002t0087a0002c0002t0088 | a0002c0002t0087g0325a0002c0002t0088g0326 | 2 | 360 | 0.0056 | -19 | c.619 others(34): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571890 | TATATATA others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0072 | 1 | 446 | 0.0022 | -19 | c.*40 others(28): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 409 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SENP6_chr6_75596880_75723281 | 75638610 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0150 | 1 | 362 | 0.0028 | -19 | c.459 others(36): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75638612 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 362 | 0.0028 | -19 | c.459 others(36): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SENP7_chr3_101319205_101518212 | 101441540 | TTGCCAAT others(12): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0013 | a0001c0013t0018 | a0001c0013t0018g0020 | 1 | 370 | 0.0027 | -19 | c.284 others(38): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SEPTIN1_chr16_30373135_30387561 | 30385206 | TAATAATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 310 | 0.0032 | -19 | c.-26 others(30): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 2646 | chr16 | TogoVar | ||||||
SEPTIN3_chr22_41964443_42003221 | 41967165 | CCTCCCCC others(12): Show |
C | upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 360 | 0.0028 | -19 | c.-25 others(30): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 2277 | chr22 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119620958 | CCCACCAC others(12): Show |
C | intron_variant | MODIFIER | NA18973.hp2 NA19043.hp1 NA19067.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0003g0117a0001c0001t0008g0094a0001c0001t0015g0140others(1): Show | 4 | 252 | 0.0159 | -19 | c.*42 others(34): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35830613 | GTCATGGA others(12): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0085 | 1 | 346 | 0.0029 | -19 | c.62- others(32): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77299854 | TCAAGAGA others(12): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0138a0001c0001t0005g0023a0001c0001t0008g0020others(10): Show | 13 | 150 | 0.0867 | -19 | c.20- others(34): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERAC1_chr6_158104519_158173262 | 158147768 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 366 | 0.0027 | -19 | c.356 others(34): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 5/16 | chr6 | TogoVar | ||||||
SERBP1_chr1_67402810_67435402 | 67424779 | CTCTCAGA others(12): Show |
C | intron_variant | MODIFIER | NA18949.hp2 NA18979.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161a0001c0001t0002g0162a0001c0001t0002g0223 | 3 | 368 | 0.0082 | -19 | c.695 others(33): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
SERHL2_chr22_42548956_42579382 | 42563187 | TTTCTTTT others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(156): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0009a0002c0014others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(17): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0013others(133): Show | 159 | 432 | 0.3681 | -19 | c.613 others(36): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SERPINA12_chr14_94482279_94514469 | 94502857 | CACCCCTT others(12): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 446 | 0.0022 | -19 | c.-33 others(36): Show |
SERPINA12 | ENSG00000165953.10 | transcript | ENST00000677451.1 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
SERPINB6_chr6_2943159_2976567 | 2972206 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0030others(67): Show | 122 | 384 | 0.3177 | -19 | c.-70 others(28): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 640 | chr6 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140281 | AAAGAAAG others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 436 | 0.0023 | -19 | c.*28 others(30): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 1035 | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101143518 | AAAGAAAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01884.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0295a0001c0001t0001g0299others(4): Show | 7 | 436 | 0.0161 | -19 | c.*60 others(30): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4272 | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101143527 | GAGAAAGA others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG01934.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(28): Show | 36 | 436 | 0.0826 | -19 | c.*60 others(30): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4281 | chr7 | TogoVar | ||||||
SERPINE2_chr2_223970045_224044286 | 223972692 | ACACAGTG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01496.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0002g0211a0001c0001t0002g0349a0001c0002t0001g0042others(24): Show | 28 | 374 | 0.0749 | -19 | c.*31 others(30): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 2352 | chr2 | TogoVar | ||||||
SERPINE2_chr2_223970045_224044286 | 224039614 | ACCAGGGC others(12): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0017 | 1 | 374 | 0.0027 | -19 | c.-55 others(28): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 329 | chr2 | TogoVar | ||||||
SERPINE2_chr2_223970045_224044286 | 224044105 | CTTTTTCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0194 | 1 | 374 | 0.0027 | -19 | c.-50 others(30): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4820 | chr2 | TogoVar | ||||||
SERTAD1_chr19_40416589_40430992 | 40419770 | AGAGGCTC others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 368 | 0.0027 | -19 | c.*30 others(30): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 1818 | chr19 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 109044311 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 184 | 0.0054 | -19 | c.280 others(38): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44989889 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0076a0001c0001t0001g0137a0001c0001t0003g0100 | 3 | 140 | 0.0214 | -19 | c.400 others(40): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47044344 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0293 | 1 | 308 | 0.0033 | -19 | c.709 others(38): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | ||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0118 | 1 | 308 | 0.0033 | -19 | c.210 others(36): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26316886 | AAGAAAGA others(12): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0141 | 1 | 240 | 0.0042 | -19 | c.201 others(38): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |