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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPTIN6_chrX_119611945_119698168 | 119690723 | CAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0005 | a0001c0001t0019g0158 a0001c0002t0005g0159 |
2 | 252 | 0.0079 | -6 | c.30+ others(21): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119697178 | GGAGTTC | G | upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | -6 | c.-40 others(17): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 4011 | chrX | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132751440 | GTTTGTA | G | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG02717.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0054 a0001c0001t0003g0150 a0001c0001t0003g0152 others(6): Show |
12 | 326 | 0.0368 | -6 | c.*57 others(15): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 10/10 | 570 | chr5 | TogoVar | ||||||
SEPTIN8_chr5_132745819_132782239 | 132767943 | CCACACA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show |
6 | 326 | 0.0184 | -6 | c.31- others(21): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132769982 | CATATAT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0003g0152 others(6): Show |
12 | 326 | 0.0368 | -6 | c.31- others(21): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132770018 | TATATAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(24): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0002a0001c0002t0002a0006c0009t0002 | a0001c0001t0002g0220 a0001c0002t0002g0007 a0001c0002t0002g0028 others(20): Show |
27 | 326 | 0.0828 | -6 | c.31- others(21): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77279253 | ATTTTTC | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01123.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 others(24): Show |
27 | 150 | 0.1800 | -6 | c.-22 others(17): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2245 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77300340 | ATTGACT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 others(53): Show |
56 | 150 | 0.3733 | -6 | c.20- others(21): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77301394 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp2 HG03486.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0014 | a0001c0001t0002g0125 a0002c0002t0004g0024 a0002c0002t0014g0124 |
3 | 150 | 0.0200 | -6 | c.20- others(21): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77335854 | GTATATA | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0105 others(57): Show |
60 | 150 | 0.4000 | -6 | c.76+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77343031 | ATCTATC | A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0133 others(6): Show |
9 | 150 | 0.0600 | -6 | c.76+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77351228 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp2 HG02922.hp1 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0001 | a0001c0001t0001g0121 a0001c0001t0017g0078 a0002c0002t0001g0094 |
3 | 150 | 0.0200 | -6 | c.76+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77384842 | AACACAC | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02145.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 others(24): Show |
27 | 150 | 0.1800 | -6 | c.77- others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77413087 | CGTGTGT | C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(17): Show |
20 | 150 | 0.1333 | -6 | c.721 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77447999 | ATCTGTG | A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0052 | a0001c0001t0002g0119 a0001c0001t0052g0013 |
2 | 150 | 0.0133 | -6 | c.722 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77466054 | TCACACA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0085 others(32): Show |
35 | 150 | 0.2333 | -6 | c.722 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77484580 | ATGATGG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 others(41): Show |
44 | 150 | 0.2933 | -6 | c.913 others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77486522 | GCGCGCA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 others(40): Show |
43 | 150 | 0.2867 | -6 | c.914 others(21): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77335854 | GTATATA | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0058 others(55): Show |
58 | 158 | 0.3671 | -6 | c.22+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77343031 | ATCTATC | A | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0001c0001t0024a0001c0001t0054others(4): Show | a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0024g0070 others(6): Show |
9 | 158 | 0.0570 | -6 | c.22+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77351228 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp2 HG02922.hp1 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0001 | a0001c0001t0001g0147 a0001c0001t0007g0005 a0002c0002t0001g0062 |
3 | 158 | 0.0190 | -6 | c.22+ others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77384842 | AACACAC | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02145.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0002g0077 a0001c0001t0002g0123 a0001c0001t0002g0143 others(22): Show |
25 | 158 | 0.1582 | -6 | c.23- others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77413087 | CGTGTGT | C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(12): Show | a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0010g0078 others(16): Show |
19 | 158 | 0.1203 | -6 | c.667 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77447999 | ATCTGTG | A | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0156 a0001c0001t0038g0106 |
2 | 158 | 0.0127 | -6 | c.668 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77466054 | TCACACA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0039 others(34): Show |
37 | 158 | 0.2342 | -6 | c.668 others(25): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484580 | ATGATGG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 others(42): Show |
45 | 158 | 0.2848 | -6 | c.859 others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484898 | GTGGTGA | G | intron_variant | MODIFIER | HG01099.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0052 | a0001c0001t0046g0054 a0001c0001t0052g0035 |
2 | 158 | 0.0127 | -6 | c.860 others(23): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77486522 | GCGCGCA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 others(41): Show |
44 | 158 | 0.2785 | -6 | c.860 others(21): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158124748 | AACACAC | A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(86): Show |
a0001a0002a0007 | a0001c0001a0002c0004a0007c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(81): Show |
89 | 366 | 0.2432 | -6 | c.101 others(25): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 10/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158124784 | CACACAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0010 others(59): Show |
68 | 366 | 0.1858 | -6 | c.101 others(25): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 10/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143345 | CTCTATA | C | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0081 a0001c0001t0001g0182 a0001c0001t0005g0251 |
3 | 366 | 0.0082 | -6 | c.610 others(21): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158147768 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(84): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show |
87 | 366 | 0.2377 | -6 | c.356 others(21): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67409417 | ACACCCC | A | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG02074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0084 | a0001c0001t0027g0181 a0001c0001t0027g0191 a0001c0001t0027g0227 others(1): Show |
4 | 368 | 0.0109 | -6 | c.*37 others(17): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 8/8 | 3784 | chr1 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17888628 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 others(24): Show |
27 | 226 | 0.1195 | -6 | c.101 others(27): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896787 | GAAGGGT | G | intron_variant | MODIFIER | HG01168.hp2 HG02698.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0215 a0002c0003t0001g0046 |
2 | 226 | 0.0089 | -6 | c.101 others(27): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896828 | ACGGAAG | A | intron_variant | MODIFIER | NA18522.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0103 a0004c0004t0001g0003 |
2 | 226 | 0.0089 | -6 | c.101 others(27): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17917781 | GCAGAAT | G | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0099 |
2 | 226 | 0.0089 | -6 | c.101 others(27): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998434 | TACATAC | T | intron_variant | MODIFIER | HG02056.hp1 HG03209.hp2 NA19043.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0021 a0001c0001t0001g0114 a0004c0004t0001g0004 |
3 | 226 | 0.0133 | -6 | c.508 others(23): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998436 | CATACAT | C | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0088 others(4): Show |
7 | 226 | 0.0310 | -6 | c.508 others(23): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998440 | CATATAT | C | intron_variant | MODIFIER | HG01106.hp1 HG02015.hp2 HG02145.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0002a0005c0005t0002 | a0001c0001t0001g0033 a0001c0002t0002g0148 a0001c0002t0002g0171 others(6): Show |
9 | 226 | 0.0398 | -6 | c.508 others(23): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015274 | TGAGAGA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG01255.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0002c0003t0001a0005c0005t0002 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(13): Show |
16 | 226 | 0.0708 | -6 | c.-22 others(17): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2228 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42567714 | CTTTAAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(118): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0009a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(8): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0013 others(99): Show |
121 | 432 | 0.2801 | -6 | c.648 others(23): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERHL2_chr22_42548956_42579382 | 42569839 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00738.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0063 others(36): Show |
43 | 432 | 0.0995 | -6 | c.649 others(23): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC3_chr20_44492441_44527070 | 44506584 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01099.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0006a0004c0005t0006 | a0001c0001t0006g0012 a0001c0001t0006g0059 a0001c0001t0006g0060 others(3): Show |
9 | 300 | 0.0300 | -6 | c.783 others(21): Show |
SERINC3 | ENSG00000132824.14 | transcript | ENST00000342374.5 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80148183 | TTTATTC | T | intron_variant | MODIFIER | HG00735.hp2 HG03239.hp1 HG04199.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0065a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0001t0065g0132 a0001c0002t0003g0222 a0001c0002t0005g0122 others(3): Show |
6 | 286 | 0.0210 | -6 | c.105 others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 9/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80174369 | AAATAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0277 a0001c0001t0006g0064 a0001c0001t0007g0150 others(3): Show |
6 | 286 | 0.0210 | -6 | c.551 others(21): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 5/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80197308 | TGAGAGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0039 others(24): Show |
27 | 286 | 0.0944 | -6 | c.195 others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80224945 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(159): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0022 others(159): Show |
162 | 286 | 0.5664 | -6 | c.28- others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80229021 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01496.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0001g0268 a0001c0001t0008g0267 a0001c0001t0010g0266 others(3): Show |
6 | 286 | 0.0210 | -6 | c.28- others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94452598 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(65): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(35): Show |
68 | 452 | 0.1504 | -6 | c.-4+ others(19): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar |