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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCUBE2_chr11_9014476_9096599 | 9090492 | T | TATTTATT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(17): Show | a0001c0002t0001g0070 a0001c0002t0001g0093 a0001c0002t0001g0094 others(60): Show |
64 | 266 | 0.2406 | 9 | c.134 others(24): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387887 | A | ACCACCAC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0001a0002c0006t0001 | a0002c0001t0001g0000 a0002c0006t0001g0000 |
150 | 452 | 0.3319 | 9 | c.54_ others(14): Show |
p.Gly others(20): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1/1 | 62/267 | 62/267 | 21/88 | chr2 | TogoVar | |||
SCYGR3_chr2_227609538_227619840 | 227610047 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02083.hp2 HG03139.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0004t0001a0002c0003t0001 | a0001c0002t0001g0000 a0001c0004t0001g0000 a0002c0003t0001g0000 |
7 | 14 | 0.5000 | 9 | c.*44 others(20): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 4490 | chr2 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169852999 | A | AGGCAGAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0019others(6): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(33): Show |
72 | 416 | 0.1731 | 9 | c.*70 others(18): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 713 | chr1 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75978982 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG02132.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(7): Show | a0001c0001t0003g0160 a0001c0001t0007g0195 a0001c0002t0001g0304 others(15): Show |
18 | 51 | 0.3529 | 9 | c.295 others(26): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96576374 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0001g0284 others(5): Show |
8 | 196 | 0.0408 | 9 | c.61- others(26): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576416 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01243.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0152 a0001c0001t0001g0239 others(22): Show |
25 | 85 | 0.2941 | 9 | c.61- others(26): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243296535 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0061 a0001c0001t0001g0127 a0001c0001t0001g0186 others(2): Show |
5 | 10 | 0.5000 | 9 | c.675 others(26): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243353490 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0002g0077 a0001c0002t0001g0046 others(5): Show |
8 | 22 | 0.3636 | 9 | c.147 others(28): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0028a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0028g0081 a0002c0002t0003g0015 a0002c0002t0003g0025 others(7): Show |
12 | 192 | 0.0625 | 9 | c.-17 others(20): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70573264 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02109.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0007t0001others(4): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 others(11): Show |
16 | 231 | 0.0693 | 9 | c.65- others(24): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3299677 | A | AGCTGCTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0007a0001c0032a0001c0039others(16): Show | a0001c0007t0003a0001c0032t0058a0001c0039t0050others(17): Show | a0001c0007t0003g0032 a0001c0032t0058g0043 a0001c0039t0050g0022 others(17): Show |
20 | 36 | 0.5556 | 9 | c.-19 others(20): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1574 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3485683 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03453.hp2 HG03471.hp1 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0040a0004c0003a0005c0057others(1): Show | a0001c0040t0001a0004c0003t0052a0005c0057t0013others(1): Show | a0001c0040t0001g0040 a0004c0003t0052g0069 a0005c0057t0013g0045 others(1): Show |
4 | 16 | 0.2500 | 9 | c.299 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3504265 | C | CGTCGTTG others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 |
a0002a0021 | a0002c0013a0021c0068 | a0002c0013t0064a0021c0068t0014 | a0002c0013t0064g0023 a0021c0068t0014g0014 |
2 | 115 | 0.0174 | 9 | c.299 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3945899 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02630.hp1 others(2): Show |
a0001a0012a0020others(1): Show | a0001c0002a0001c0092a0012c0015others(2): Show | a0001c0002t0040a0001c0092t0048a0012c0015t0017others(2): Show | a0001c0002t0040g0084 a0001c0092t0048g0057 a0012c0015t0017g0066 others(2): Show |
5 | 8 | 0.6250 | 9 | c.848 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4091334 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02896.hp2 others(2): Show |
a0001a0011a0012 | a0001c0002a0001c0091a0001c0093others(2): Show | a0001c0002t0040a0001c0091t0010a0001c0093t0006others(2): Show | a0001c0002t0040g0084 a0001c0091t0010g0055 a0001c0093t0006g0053 others(2): Show |
5 | 93 | 0.0538 | 9 | c.332 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4097260 | C | CTCTTCTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0005others(18): Show | a0001c0002a0001c0007a0001c0008others(46): Show | a0001c0002t0040a0001c0007t0021a0001c0008t0007others(50): Show | a0001c0002t0040g0084 a0001c0007t0021g0110 a0001c0008t0007g0067 others(53): Show |
56 | 116 | 0.4828 | 9 | c.332 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4107111 | C | CAGGGTGG others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03209.hp2 NA20129.hp2 |
a0001a0035 | a0001c0002a0001c0048a0035c0073 | a0001c0002t0002a0001c0048t0001a0035c0073t0001 | a0001c0002t0002g0096 a0001c0048t0001g0029 a0035c0073t0001g0016 |
3 | 102 | 0.0294 | 9 | c.332 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4162369 | G | GTTGTTAT others(2): Show |
intron_variant | MODIFIER | HG03471.hp2 HG04228.hp2 |
a0002a0004 | a0002c0029a0004c0080 | a0002c0029t0005a0004c0080t0014 | a0002c0029t0005g0094 a0004c0080t0014g0078 |
2 | 43 | 0.0465 | 9 | c.480 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73416199 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01243.hp2 others(25): Show |
a0001a0003a0004others(9): Show | a0001c0002a0001c0003a0001c0007others(21): Show | a0001c0002t0001a0001c0002t0041a0001c0002t0065others(24): Show | a0001c0002t0001g0114 a0001c0002t0041g0022 a0001c0002t0065g0177 others(25): Show |
28 | 32 | 0.8750 | 9 | c.218 others(26): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 16/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01081.hp1 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0015a0002c0020a0002c0028others(9): Show | a0001c0015t0012a0002c0020t0089a0002c0028t0060others(11): Show | a0001c0015t0012g0074 a0002c0020t0089g0107 a0002c0028t0060g0018 others(11): Show |
14 | 17 | 0.8235 | 9 | c.158 others(28): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDS_chr12_113387445_113408887 | 113396486 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(255): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
258 | 292 | 0.8836 | 9 | c.653 others(24): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39059280 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG02683.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0145 others(7): Show |
10 | 364 | 0.0275 | 9 | c.150 others(28): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39059290 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(38): Show |
43 | 346 | 0.1243 | 9 | c.150 others(28): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39083563 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(83): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(81): Show |
86 | 117 | 0.7350 | 9 | c.828 others(26): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18518582 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 HG03209.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0004a0007c0009t0004 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0029 others(2): Show |
6 | 72 | 0.0833 | 9 | c.366 others(26): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134699301 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01358.hp2 HG02027.hp2 others(15): Show |
a0001a0003a0009 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 others(13): Show |
18 | 298 | 0.0604 | 9 | c.226 others(28): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC31A_chr4_82813509_82896153 | 82837199 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0122 a0001c0001t0001g0134 others(6): Show |
10 | 198 | 0.0505 | 9 | c.296 others(28): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82846366 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(67): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0033 others(66): Show |
70 | 82 | 0.8537 | 9 | c.250 others(28): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 20/26 | chr4 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12127557 | G | GACACCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02040.hp2 HG02165.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0066 others(3): Show |
7 | 86 | 0.0814 | 9 | c.-22 others(20): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 2119 | chr10 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12971634 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0048 a0001c0001t0001g0147 a0001c0001t0001g0156 others(5): Show |
8 | 89 | 0.0899 | 9 | c.620 others(24): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13848313 | G | GAGAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0100 others(4): Show |
7 | 195 | 0.0359 | 9 | c.*11 others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 933 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848324 | G | GAAGAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02040.hp2 HG02155.hp2 others(6): Show |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0001a0001c0001t0002a0010c0015t0001 | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 others(6): Show |
9 | 322 | 0.0280 | 9 | c.*11 others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 922 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848546 | A | AAGAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0165 others(7): Show |
10 | 75 | 0.1333 | 9 | c.*93 others(18): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 700 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13907742 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02886.hp2 others(1): Show |
a0001a0005a0008 | a0001c0001a0005c0007a0008c0014 | a0001c0001t0001a0005c0007t0001a0008c0014t0002 | a0001c0001t0001g0305 a0005c0007t0001g0301 a0005c0007t0001g0302 others(1): Show |
4 | 261 | 0.0153 | 9 | c.549 others(26): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934473 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01243.hp1 NA18747.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0179 a0001c0001t0001g0191 a0002c0002t0003g0184 others(1): Show |
4 | 257 | 0.0156 | 9 | c.115 others(26): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939665 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(65): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 others(65): Show |
68 | 73 | 0.9315 | 9 | c.115 others(26): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25744348 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01192.hp1 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0047 others(24): Show |
27 | 153 | 0.1765 | 9 | c.*40 others(20): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 3084 | chr4 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86867490 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 HG03834.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0003 a0001c0001t0005g0051 a0001c0001t0006g0007 others(1): Show |
6 | 149 | 0.0403 | 9 | c.366 others(24): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25812564 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18985.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0004g0001 |
3 | 62 | 0.0484 | 9 | c.128 others(26): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 9/12 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOT_chr3_150598321_150635436 | 150631202 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0175 a0001c0001t0004g0007 a0001c0001t0004g0034 others(6): Show |
9 | 39 | 0.2308 | 9 | c.*35 others(20): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 767 | chr3 | TogoVar | |||||||
SELENOV_chr19_39510139_39525675 | 39517964 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01261.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0076 a0001c0001t0001g0088 others(3): Show |
11 | 171 | 0.0643 | 9 | c.810 others(24): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SELP_chr1_169583849_169635124 | 169587561 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG03098.hp2 others(3): Show |
a0004a0005a0008others(2): Show | a0004c0017a0005c0035a0008c0013others(2): Show | a0004c0017t0001a0005c0035t0001a0008c0013t0001others(2): Show | a0004c0017t0001g0165 a0005c0035t0001g0257 a0008c0013t0001g0236 others(3): Show |
6 | 129 | 0.0465 | 9 | c.*19 others(20): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 1287 | chr1 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50272855 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0004t0001g0014 others(1): Show |
7 | 205 | 0.0341 | 9 | c.665 others(24): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80765583 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02717.hp2 others(8): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0004g0046 a0001c0002t0001g0067 a0001c0002t0001g0080 others(8): Show |
11 | 216 | 0.0509 | 9 | c.135 others(26): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 12/17 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83402385 | A | AGTTACTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0040 others(2): Show |
5 | 224 | 0.0223 | 9 | c.114 others(26): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 10/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83454272 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0010a0001c0005t0011others(1): Show | a0001c0005t0007g0211 a0001c0005t0007g0212 a0001c0005t0007g0216 others(6): Show |
9 | 195 | 0.0462 | 9 | c.456 others(28): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83456622 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 others(60): Show |
63 | 76 | 0.8289 | 9 | c.456 others(26): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83570552 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01884.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0001t0015a0001c0001t0016others(16): Show | a0001c0001t0008g0186 a0001c0001t0015g0199 a0001c0001t0016g0198 others(24): Show |
27 | 87 | 0.3103 | 9 | c.115 others(28): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83639110 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0060a0001c0002t0001others(2): Show | a0001c0001t0005g0090 a0001c0001t0060g0180 a0001c0002t0001g0073 others(5): Show |
8 | 128 | 0.0625 | 9 | c.115 others(26): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar |