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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA3A_chr7_83950777_84199789 | 84111436 | T | TGTACTCA others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01978.hp1 HG02155.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0006others(1): Show | a0001c0003t0012a0001c0008t0008a0001c0008t0013others(2): Show | a0001c0003t0012g0154 a0001c0008t0008g0085 a0001c0008t0013g0084 others(7): Show |
10 | 274 | 0.0365 | 15 | c.334 others(30): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 3/16 | chr7 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50272855 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00738.hp1 others(58): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 others(11): Show |
61 | 259 | 0.2355 | 15 | c.665 others(30): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEMA3B_chr3_50264147_50282546 | 50272879 | T | TAATAATA others(8): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0037 | 2 | 277 | 0.0072 | 15 | c.665 others(30): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80815554 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02132.hp2 HG02630.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0005others(2): Show | a0001c0001t0001g0074 a0001c0002t0001g0104 a0001c0007t0005g0064 others(2): Show |
5 | 123 | 0.0407 | 15 | c.447 others(32): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80863704 | T | TGATATAT others(8): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 242 | 0.0041 | 15 | c.104 others(34): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83454272 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0009 | a0003c0009t0037 | a0003c0009t0037g0018 | 1 | 187 | 0.0053 | 15 | c.456 others(34): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83639110 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02145.hp1 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0093 others(5): Show |
8 | 128 | 0.0625 | 15 | c.115 others(32): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4C_chr2_96854718_96875080 | 96872359 | C | CAAACAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0019 others(1): Show |
7 | 269 | 0.0260 | 15 | c.-25 others(26): Show |
SEMA4C | ENSG00000168758.11 | transcript | ENST00000305476.10 | protein_coding | 2280 | chr2 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9143810 | A | ACCTCCTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0016a0001c0001t0019a0001c0001t0028others(24): Show | a0001c0001t0016g0090 a0001c0001t0019g0118 a0001c0001t0028g0006 others(27): Show |
30 | 132 | 0.2273 | 15 | c.148 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154062 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18960.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0039 a0001c0005t0001g0052 |
2 | 75 | 0.0267 | 15 | c.148 others(32): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353082 | A | AGGAAGGA others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 123 | 0.0081 | 15 | c.125 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353096 | A | AAGGAAAG others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0007 | a0001c0007t0031 | a0001c0007t0031g0012 | 1 | 50 | 0.0200 | 15 | c.125 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353163 | A | AAAAGGAA others(8): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0134 | 1 | 132 | 0.0076 | 15 | c.125 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353189 | G | GGGAAAGG others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01981.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0006a0001c0001t0016a0001c0002t0004others(7): Show | a0001c0001t0006g0061 a0001c0001t0016g0090 a0001c0002t0004g0026 others(7): Show |
10 | 32 | 0.3125 | 15 | c.125 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353354 | G | GAAGGAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0046a0001c0015t0008 | a0001c0001t0046g0023 a0001c0015t0008g0112 |
2 | 27 | 0.0741 | 15 | c.125 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9407996 | T | TCATCACC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(41): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0010 a0001c0001t0001g0076 a0001c0001t0002g0131 others(41): Show |
44 | 132 | 0.3333 | 15 | c.-77 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9408012 | C | CATCACCA others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0031 | a0001c0001t0001g0038 a0001c0007t0031g0012 |
2 | 132 | 0.0152 | 15 | c.-77 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9426432 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00673.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(19): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0076 others(23): Show |
26 | 35 | 0.7429 | 15 | c.-78 others(34): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935682 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0261 | 1 | 288 | 0.0035 | 15 | c.474 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19030.hp1 |
a0001a0008 | a0001c0005a0008c0011 | a0001c0005t0003a0008c0011t0003 | a0001c0005t0003g0038 a0008c0011t0003g0181 |
2 | 16 | 0.1250 | 15 | c.474 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122966536 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 91 | 0.0110 | 15 | c.-38 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122966887 | T | TTATTATT others(8): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 264 | 0.0038 | 15 | c.-38 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116548262 | A | ACATTTAG others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0030a0001c0003t0047 | a0001c0001t0001g0019 a0001c0001t0030g0279 a0001c0003t0047g0017 |
3 | 302 | 0.0099 | 15 | c.-39 others(34): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116579584 | C | CTTTCTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02280.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0008a0001c0001t0022a0001c0001t0023others(6): Show | a0001c0001t0008g0002 a0001c0001t0008g0285 a0001c0001t0008g0288 others(10): Show |
14 | 276 | 0.0507 | 15 | c.-54 others(26): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 4762 | chr5 | TogoVar | |||||||
SEMA6B_chr19_4537593_4564684 | 4553397 | G | GGATGGAT others(8): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0242 | 1 | 438 | 0.0023 | 15 | c.772 others(30): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 9/16 | chr19 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47725817 | T | TGCCAAGA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(94): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0017others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0004t0005others(19): Show | a0001c0001t0002g0249 a0001c0001t0017g0281 a0001c0004t0005g0001 others(78): Show |
97 | 386 | 0.2513 | 15 | c.-55 others(32): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMA6D_chr15_47712505_47779228 | 47772391 | T | TGTGTGTG others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0176 | 1 | 386 | 0.0026 | 15 | c.*60 others(24): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 19/19 | 607 | chr15 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185587570 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp2 HG01952.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0022others(5): Show | a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0003g0222 others(8): Show |
11 | 216 | 0.0509 | 15 | c.101 others(32): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185592007 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0090 | a0002c0002t0090g0283 | 1 | 311 | 0.0032 | 15 | c.157 others(32): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185623826 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG01433.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0009a0002c0002t0012others(5): Show | a0002c0002t0007g0315 a0002c0002t0009g0279 a0002c0002t0009g0286 others(7): Show |
10 | 156 | 0.0641 | 15 | c.152 others(32): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631477 | T | TCCCCCCC others(8): Show |
3_prime_UTR_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0328 | 1 | 335 | 0.0030 | 15 | c.*16 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1640 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631478 | C | CTCCCTCC others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02257.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0015a0003c0004t0015 | a0002c0002t0015g0262 a0002c0002t0015g0263 a0002c0002t0015g0266 others(2): Show |
5 | 355 | 0.0141 | 15 | c.*16 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1635 | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631479 | C | CCCCCTCC others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0326 | 1 | 358 | 0.0028 | 15 | c.*16 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1644 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631612 | C | CCCCCCCC others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0094 | 1 | 357 | 0.0028 | 15 | c.*17 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1775 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP5_chr3_196862920_196939714 | 196868880 | A | ATGTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0074 others(226): Show |
232 | 304 | 0.7632 | 15 | c.-32 others(30): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196868886 | T | TTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006 | a0001c0001t0004g0097 a0001c0002t0006g0096 |
2 | 304 | 0.0066 | 15 | c.-32 others(30): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0114 | 1 | 67 | 0.0149 | 15 | c.188 others(34): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0021 | 1 | 67 | 0.0149 | 15 | c.188 others(34): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
SENP6_chr6_75596880_75723281 | 75652698 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 358 | 0.0028 | 15 | c.550 others(32): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75705924 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 152 | 0.0066 | 15 | c.271 others(34): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 19/23 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101410845 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(6): Show | a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0201 others(75): Show |
78 | 155 | 0.5032 | 15 | c.482 others(32): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101499535 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18906.hp2 NA19030.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0098 a0003c0004t0002g0099 a0003c0004t0002g0100 |
3 | 180 | 0.0167 | 15 | c.90+ others(30): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 2/23 | chr3 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109604383 | A | AAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0213 a0001c0001t0005g0005 a0001c0001t0005g0092 others(12): Show |
16 | 69 | 0.2319 | 15 | c.30+ others(30): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55830349 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094 | 1 | 147 | 0.0068 | 15 | c.720 others(32): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55846064 | A | AAGTATAT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0264 |
2 | 382 | 0.0052 | 15 | c.175 others(30): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55857490 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0254 a0001c0001t0001g0297 a0001c0001t0001g0348 others(11): Show |
14 | 154 | 0.0909 | 15 | c.54+ others(30): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 41978893 | T | TGGAGGAG others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 |
a0005a0011 | a0005c0007a0011c0010 | a0005c0007t0001a0011c0010t0001 | a0005c0007t0001g0136 a0011c0010t0001g0154 |
2 | 126 | 0.0159 | 15 | c.150 others(34): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(10): Show |
54 | 75 | 0.7200 | 15 | c.-18 others(26): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119616577 | A | ATGAACAC others(8): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 250 | 0.0040 | 15 | c.*35 others(26): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 367 | chrX | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35814627 | G | GGTGATTT others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0170 | 1 | 344 | 0.0029 | 15 | c.61+ others(32): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |