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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA6C_chr1_151126707_151151631 | 151137445 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01358.hp2 others(11): Show |
a0001a0016 | a0001c0001a0016c0023 | a0001c0001t0001a0016c0023t0001 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0039 others(5): Show |
14 | 338 | 0.0414 | 5 | c.756 others(20): Show |
SEMA6C | ENSG00000143434.17 | transcript | ENST00000368914.8 | protein_coding | 10/18 | chr1 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47760131 | T | TAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(160): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0019a0002c0002others(4): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0006others(38): Show | a0001c0004t0003g0007 a0001c0004t0003g0027 a0001c0004t0003g0028 others(140): Show |
163 | 388 | 0.4201 | 5 | c.110 others(20): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMA6D_chr15_47712505_47779228 | 47776837 | C | CTTGGT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(197): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(72): Show | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0013 others(185): Show |
200 | 388 | 0.5155 | 5 | c.*50 others(16): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 2610 | chr15 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056437 | A | AAATAT | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0151 a0001c0003t0008g0293 a0001c0003t0008g0294 others(3): Show |
6 | 394 | 0.0152 | 5 | c.140 others(24): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48075216 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(158): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(158): Show |
161 | 394 | 0.4086 | 5 | c.553 others(20): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185581388 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02451.hp1 HG03492.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0011a0002c0002t0028others(2): Show | a0002c0002t0007g0296 a0002c0002t0007g0302 a0002c0002t0011g0317 others(3): Show |
6 | 360 | 0.0167 | 5 | c.-50 others(16): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 4906 | chr3 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185588050 | A | ATTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02451.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0058a0002c0002t0001a0002c0002t0016others(12): Show | a0001c0001t0058g0143 a0002c0002t0001g0275 a0002c0002t0016g0303 others(12): Show |
15 | 360 | 0.0417 | 5 | c.101 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185623826 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00741.hp1 others(31): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(15): Show | a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0233 others(31): Show |
34 | 360 | 0.0944 | 5 | c.152 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631494 | C | CTCCCT | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0139a0001c0001t0140a0001c0001t0168others(1): Show | a0001c0001t0139g0351 a0001c0001t0140g0348 a0001c0001t0168g0352 others(1): Show |
4 | 360 | 0.0111 | 5 | c.*16 others(16): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1651 | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631577 | C | CCCCCA | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(61): Show |
a0002a0005 | a0002c0002a0002c0009a0005c0006 | a0002c0002t0007a0002c0002t0008a0002c0002t0011others(43): Show | a0002c0002t0007g0285 a0002c0002t0007g0292 a0002c0002t0007g0296 others(60): Show |
64 | 360 | 0.1778 | 5 | c.*17 others(16): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1737 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631592 | C | CTCCCT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(56): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0123a0002c0002t0001a0002c0002t0002others(22): Show | a0001c0001t0123g0022 a0002c0002t0001g0220 a0002c0002t0001g0222 others(56): Show |
59 | 360 | 0.1639 | 5 | c.*17 others(16): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1749 | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196933013 | G | GTTTTT | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(11): Show | a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 others(63): Show |
66 | 306 | 0.2157 | 5 | c.*20 others(16): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 10/10 | 2097 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75652683 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01074.hp2 others(21): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0003a0002c0003t0003a0002c0003t0019 | a0001c0004t0003g0177 a0002c0003t0003g0026 a0002c0003t0003g0027 others(21): Show |
24 | 362 | 0.0663 | 5 | c.550 others(22): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75701633 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0309 a0001c0001t0004g0319 a0001c0001t0004g0321 others(8): Show |
11 | 362 | 0.0304 | 5 | c.228 others(22): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75719958 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02486.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0005a0001c0002t0003a0001c0002t0009others(2): Show | a0001c0001t0005g0159 a0001c0002t0003g0021 a0001c0002t0003g0346 others(6): Show |
9 | 362 | 0.0249 | 5 | c.*43 others(16): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1678 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101380445 | C | CCCACA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01169.hp2 others(22): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0007 | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0186 a0001c0001t0001g0287 a0001c0001t0001g0293 others(22): Show |
25 | 370 | 0.0676 | 5 | c.678 others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 6/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101402616 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0234 others(3): Show |
6 | 370 | 0.0162 | 5 | c.483 others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101410845 | A | AAAAAT | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp2 HG01943.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0282 a0001c0003t0002g0019 a0001c0003t0002g0024 others(10): Show |
13 | 370 | 0.0351 | 5 | c.482 others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101427490 | C | CAAAAA | intron_variant | MODIFIER | HG01361.hp2 NA18949.hp2 NA18994.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0227 others(3): Show |
6 | 370 | 0.0162 | 5 | c.285 others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440581 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(19): Show |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0002a0006c0010t0002 | a0003c0004t0002g0092 a0003c0004t0002g0094 a0003c0004t0002g0097 others(19): Show |
22 | 370 | 0.0595 | 5 | c.284 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101456941 | T | TTTTTG | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01891.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0004others(1): Show | a0001c0003t0002a0001c0003t0005a0002c0002t0003others(2): Show | a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011 others(20): Show |
23 | 370 | 0.0622 | 5 | c.284 others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101479892 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0003c0004t0002 | a0001c0003t0002g0010 a0001c0003t0002g0012 a0003c0004t0002g0092 others(7): Show |
10 | 370 | 0.0270 | 5 | c.186 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101506019 | A | ATTTTT | intron_variant | MODIFIER | HG00621.hp2 HG02735.hp1 NA18943.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0337 others(2): Show |
5 | 370 | 0.0135 | 5 | c.41- others(20): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SENP8_chr15_72113403_72148692 | 72130557 | A | ATTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp2 HG02083.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0167 a0001c0001t0005g0018 a0001c0001t0005g0036 others(1): Show |
8 | 400 | 0.0200 | 5 | c.-47 others(22): Show |
SENP8 | ENSG00000166192.15 | transcript | ENST00000340912.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEPSECS_chr4_25115014_25165449 | 25142568 | G | GTAAGT | intron_variant | MODIFIER | HG02165.hp1 HG03579.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0021g0267 |
3 | 456 | 0.0066 | 5 | c.102 others(24): Show |
SEPSECS | ENSG00000109618.13 | transcript | ENST00000382103.7 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109540798 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00673.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(85): Show |
92 | 404 | 0.2277 | 5 | c.*35 others(16): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 2000 | chr2 | TogoVar | |||||||
SEPTIN12_chr16_4772606_4793345 | 4775805 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01175.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 others(28): Show |
39 | 422 | 0.0924 | 5 | c.*19 others(16): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 1800 | chr16 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55829820 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0011 | a0001c0001t0001g0274 a0001c0001t0001g0296 a0001c0001t0001g0300 others(3): Show |
6 | 390 | 0.0154 | 5 | c.720 others(22): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55830347 | A | ATTTTT | intron_variant | MODIFIER | HG01261.hp2 HG02083.hp1 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0014 a0001c0001t0002g0201 a0001c0001t0002g0206 others(5): Show |
8 | 390 | 0.0205 | 5 | c.720 others(22): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55830349 | A | ATTTTT | intron_variant | MODIFIER | HG00597.hp2 HG03927.hp1 HG04199.hp1 others(13): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0191 a0001c0001t0002g0210 a0001c0001t0002g0211 others(13): Show |
16 | 390 | 0.0410 | 5 | c.720 others(22): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55857393 | A | AAAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(53): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 others(53): Show |
56 | 390 | 0.1436 | 5 | c.54+ others(20): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55857490 | G | GAGGGA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(97): Show |
a0001a0008a0012 | a0001c0001a0001c0013a0008c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0013 a0001c0001t0001g0077 a0001c0001t0001g0229 others(97): Show |
100 | 390 | 0.2564 | 5 | c.54+ others(20): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30379640 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00673.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0036 others(4): Show |
33 | 310 | 0.1065 | 5 | c.676 others(20): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
SEPTIN2_chr2_241310925_241359027 | 241315881 | T | TGGGCG | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG01934.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0013a0001c0004t0008 | a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0146 others(6): Show |
11 | 408 | 0.0270 | 5 | c.-11 others(14): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 43 | chr2 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19717180 | C | CGGGTG | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0031 |
18 | 384 | 0.0469 | 5 | c.54+ others(20): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119617149 | T | TGTGTG | 3_prime_UTR_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0238 | 1 | 252 | 0.0040 | 5 | c.*29 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8226 | chrX | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119621446 | G | GTGTGT | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 252 | 0.0040 | 5 | c.*42 others(22): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119697408 | G | GAGAAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0160 a0001c0001t0002g0007 others(8): Show |
11 | 252 | 0.0437 | 5 | c.-43 others(16): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 4241 | chrX | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35829128 | C | CTTTTT | intron_variant | MODIFIER | HG01433.hp2 HG02895.hp2 HG02896.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0080 others(7): Show |
10 | 346 | 0.0289 | 5 | c.62- others(20): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35839523 | T | TTTATG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(198): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0180 others(192): Show |
201 | 346 | 0.5809 | 5 | c.169 others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77308809 | T | TGGAGA | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0015 | a0001c0001t0002g0130 a0002c0002t0015g0129 |
2 | 150 | 0.0133 | 5 | c.76+ others(20): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77318050 | C | CAATAA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 others(46): Show |
49 | 150 | 0.3267 | 5 | c.76+ others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77345931 | G | GTTGTT | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0002g0055 a0001c0001t0002g0133 a0001c0001t0005g0023 others(7): Show |
10 | 150 | 0.0667 | 5 | c.76+ others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77384842 | A | ACACAC | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0074 a0001c0001t0021g0090 |
2 | 150 | 0.0133 | 5 | c.77- others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77415647 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01106.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0001g0110 others(34): Show |
37 | 150 | 0.2467 | 5 | c.721 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77484827 | T | TGATGG | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01261.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 others(24): Show |
27 | 150 | 0.1800 | 5 | c.913 others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77318050 | C | CAATAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0020 others(50): Show |
53 | 158 | 0.3354 | 5 | c.-22 others(16): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1467 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77345931 | G | GTTGTT | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0006a0001c0001t0023a0001c0001t0024others(6): Show | a0001c0001t0006g0121 a0001c0001t0023g0066 a0001c0001t0023g0068 others(7): Show |
10 | 158 | 0.0633 | 5 | c.22+ others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77384842 | A | ACACAC | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0039 a0001c0001t0020g0049 |
2 | 158 | 0.0127 | 5 | c.23- others(22): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77415647 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01106.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0058 a0001c0001t0001g0132 a0001c0001t0001g0147 others(33): Show |
36 | 158 | 0.2279 | 5 | c.667 others(24): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |