regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCYGR1_chr2_227382683_227392949 | 227387905 | GCAGCCAC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(39): Show |
a0003a0007 | a0003c0004a0003c0011a0007c0008 | a0003c0004t0000a0003c0011t0000a0007c0008t0000 | a0003c0004t0000g0000a0003c0011t0000g0000a0007c0008t0000g0000 | 42 | 454 | 0.0925 | -9 | c.36_ others(14): Show |
p.Gly others(11): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1/1 | 44/267 | 36/267 | 12/88 | chr2 | TogoVar | ||
SCYGR2_chr2_227593893_227604255 | 227598929 | GGTGGCCG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02622.hp2 HG02717.hp2 NA18522.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0000 | a0008c0010t0000g0000 | 4 | 469 | 0.0085 | -9 | c.42_ others(14): Show |
p.Arg others(11): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 42/363 | 42/363 | 14/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SCYL3_chr1_169844631_169898896 | 169851293 | TTTACATA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18965.hp1 NA18974.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0011 | 3 | 418 | 0.0072 | -9 | c.*24 others(20): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2411 | chr1 | TogoVar | |||||
SDC2_chr8_96488813_96616790 | 96508296 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG02056.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0027a0001c0001t0001g0139a0001c0001t0001g0140others(18): Show | 22 | 334 | 0.0659 | -9 | c.60+ others(26): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SDCCAG8_chr1_243251041_243505091 | 243463439 | GCTGACAG others(2): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0027a0001c0001t0001g0032a0001c0001t0001g0037others(8): Show | 11 | 189 | 0.0582 | -9 | c.198 others(30): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SDF4_chr1_1211931_1237001 | 1231710 | CCCCCGGG others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0070others(51): Show | 69 | 400 | 0.1725 | -9 | c.-17 others(26): Show |
SDF4 | ENSG00000078808.20 | transcript | ENST00000360001.12 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
SDHAF2_chr11_61425124_61451733 | 61427026 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012a0001c0001t0003g0035a0001c0001t0003g0108others(2): Show | 7 | 238 | 0.0294 | -9 | c.-31 others(20): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 3097 | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97142042 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00642.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0200others(33): Show | 37 | 402 | 0.0920 | -9 | c.174 others(28): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDHAF4_chr6_70561930_70594569 | 70588310 | CAGGAGTT others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0038a0001c0001t0002g0215others(2): Show | 10 | 370 | 0.0270 | -9 | c.218 others(24): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3297643 | GGAGGAGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01516.hp2 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0004a0001c0005a0001c0010others(20): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0051others(22): Show | a0001c0004t0001g0039a0001c0005t0001g0023a0001c0005t0051g0030others(22): Show | 25 | 116 | 0.2155 | -9 | c.-39 others(20): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 3608 | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3409297 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02738.hp1 others(2): Show |
a0013a0014a0015others(2): Show | a0013c0084a0014c0083a0015c0085others(2): Show | a0013c0084t0045a0014c0083t0044a0015c0085t0043others(2): Show | a0013c0084t0045g0011a0014c0083t0044g0004a0015c0085t0043g0010others(2): Show | 5 | 116 | 0.0431 | -9 | c.298 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3629303 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01123.hp1 others(13): Show |
a0001a0003a0005others(3): Show | a0001c0004a0001c0005a0001c0010others(10): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0051others(13): Show | a0001c0004t0001g0039a0001c0005t0001g0023a0001c0005t0051g0030others(13): Show | 16 | 116 | 0.1379 | -9 | c.459 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3742708 | ATATACTT others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 NA20129.hp2 |
a0001a0030a0032 | a0001c0092a0030c0073a0032c0075 | a0001c0092t0048a0030c0073t0001a0032c0075t0008 | a0001c0092t0048g0057a0030c0073t0001g0015a0032c0075t0008g0016 | 3 | 116 | 0.0259 | -9 | c.714 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4055553 | GTTTTTGT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG01934.hp2 others(11): Show |
a0001a0004a0008 | a0001c0002a0001c0008a0001c0010others(10): Show | a0001c0002t0040a0001c0008t0007a0001c0010t0060others(10): Show | a0001c0002t0040g0084a0001c0008t0007g0067a0001c0010t0060g0017others(11): Show | 14 | 116 | 0.1207 | -9 | c.291 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 19/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4107111 | CAGGGTGG others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03471.hp2 HG03516.hp1 others(2): Show |
a0001a0005a0013others(2): Show | a0001c0091a0005c0080a0013c0084others(2): Show | a0001c0091t0010a0005c0080t0014a0013c0084t0045others(2): Show | a0001c0091t0010g0055a0005c0080t0014g0078a0013c0084t0045g0011others(2): Show | 5 | 116 | 0.0431 | -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 | 4162366 | GTTGTTAT others(2): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG03516.hp2 |
a0001a0035 | a0001c0007a0035c0018 | a0001c0007t0021a0035c0018t0071 | a0001c0007t0021g0110a0035c0018t0071g0005 | 2 | 116 | 0.0172 | -9 | c.480 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4162369 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01516.hp1 others(13): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0008a0001c0010others(12): Show | a0001c0002t0040a0001c0008t0004a0001c0010t0060others(12): Show | a0001c0002t0040g0084a0001c0008t0004g0096a0001c0010t0060g0017others(13): Show | 16 | 116 | 0.1379 | -9 | c.480 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4232398 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA19030.hp2 |
a0019a0034 | a0019c0051a0034c0081 | a0019c0051t0062a0034c0081t0008 | a0019c0051t0062g0019a0034c0081t0008g0075 | 2 | 116 | 0.0172 | -9 | c.582 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK2_chr17_73329384_73649445 | 73408046 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 HG02738.hp2 others(2): Show |
a0004a0012a0013others(1): Show | a0004c0040a0012c0078a0013c0099others(2): Show | a0004c0040t0028a0012c0078t0005a0013c0099t0013others(2): Show | a0004c0040t0028g0127a0012c0078t0005g0006a0013c0099t0013g0133others(2): Show | 5 | 204 | 0.0245 | -9 | c.248 others(28): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73483698 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0032a0001c0010t0004 | a0001c0001t0032g0001a0001c0010t0004g0164 | 2 | 204 | 0.0098 | -9 | c.225 others(28): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73500443 | CCCTCCAT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG02055.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0003t0051a0001c0003t0090others(14): Show | a0001c0001t0001g0197a0001c0003t0051g0046a0001c0003t0090g0132others(14): Show | 17 | 204 | 0.0833 | -9 | c.224 others(26): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73636698 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp1 HG03098.hp1 others(2): Show |
a0001a0005a0006 | a0001c0003a0001c0033a0001c0053others(2): Show | a0001c0003t0061a0001c0033t0052a0001c0053t0022others(2): Show | a0001c0003t0061g0041a0001c0033t0052g0002a0001c0053t0022g0039others(2): Show | 5 | 204 | 0.0245 | -9 | c.64+ others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | ||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0096a0001c0001t0001g0157others(6): Show | 9 | 320 | 0.0281 | -9 | c.52- others(24): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
SEC11C_chr18_59134884_59163832 | 59143352 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 NA18971.hp2 NA18979.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0092a0001c0001t0001g0120others(1): Show | 6 | 444 | 0.0135 | -9 | c.87+ others(24): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SEC13_chr3_10295931_10326112 | 10310039 | ATCACAGA others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0215others(5): Show | 11 | 380 | 0.0290 | -9 | c.450 others(26): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 5/8 | chr3 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77169007 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0015 | a0001c0001t0002g0048a0001c0001t0002g0094a0001c0005t0015g0008others(2): Show | 6 | 430 | 0.0140 | -9 | c.64- others(26): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L4_chr22_30483902_30510695 | 30504041 | ATTTTTAT others(2): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03225.hp1 HG03516.hp1 |
a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0238a0003c0006t0005g0275a0003c0006t0005g0276 | 3 | 424 | 0.0071 | -9 | c.55- others(22): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 5010188 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG02080.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0006t0003others(2): Show | a0001c0001t0003g0055a0001c0001t0003g0285a0001c0001t0003g0293others(6): Show | 9 | 376 | 0.0239 | -9 | c.180 others(26): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(49): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0307a0001c0001t0002g0071a0001c0001t0002g0072others(49): Show | 52 | 340 | 0.1529 | -9 | c.723 others(24): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEC22A_chr3_123196943_123279136 | 123269625 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01934.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0049a0001c0001t0003g0050a0001c0001t0003g0051others(10): Show | 13 | 340 | 0.0382 | -9 | c.724 others(26): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEC23A_chr14_39026919_39108235 | 39065997 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp2 NA18981.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010a0002c0002t0001g0012a0002c0002t0001g0180others(5): Show | 8 | 366 | 0.0219 | -9 | c.122 others(28): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 10/19 | chr14 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134655551 | CAGCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02735.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0243a0001c0001t0002g0244a0001c0001t0015g0283 | 3 | 318 | 0.0094 | -9 | c.98- others(24): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(18): Show | 22 | 222 | 0.0991 | -9 | c.133 others(26): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SEC24D_chr4_118717823_118841126 | 118780907 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0123a0001c0002t0001g0124a0001c0002t0001g0162others(4): Show | 7 | 300 | 0.0233 | -9 | c.104 others(30): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 8/22 | chr4 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13848391 | AGAAGAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01081.hp2 others(34): Show |
a0001a0003a0007 | a0001c0001a0001c0013a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0002others(2): Show | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0118others(34): Show | 37 | 324 | 0.1142 | -9 | c.*10 others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 855 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13848516 | AAGGAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00733.hp2 others(25): Show |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0001a0001c0001t0002a0008c0015t0001 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0101others(25): Show | 28 | 324 | 0.0864 | -9 | c.*96 others(18): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 730 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13932407 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(157): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0138others(157): Show | 160 | 324 | 0.4938 | -9 | c.115 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L3_chr4_25742433_25867988 | 25831507 | AATAATTA others(2): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0294a0001c0001t0004g0130a0001c0001t0005g0300 | 3 | 312 | 0.0096 | -9 | c.109 others(28): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 5/23 | chr4 | TogoVar | ||||||
SEL1L3_chr4_25742433_25867988 | 25831510 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02109.hp1 others(20): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0008a0001c0017others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0008t0002others(14): Show | a0001c0001t0002g0250a0001c0001t0003g0286a0001c0008t0002g0142others(18): Show | 23 | 312 | 0.0737 | -9 | c.109 others(28): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 5/23 | chr4 | TogoVar | ||||||
SEL1L_chr14_81466547_81538853 | 81467572 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0313a0001c0001t0001g0314a0001c0001t0002g0072others(9): Show | 12 | 360 | 0.0333 | -9 | c.*93 others(20): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 3974 | chr14 | TogoVar | ||||||
SEL1L_chr14_81466547_81538853 | 81482615 | TAAGTGGC others(2): Show |
T | intron_variant | MODIFIER | HG02698.hp2 HG02735.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0217a0001c0001t0001g0229others(3): Show | 6 | 360 | 0.0167 | -9 | c.204 others(28): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 19/20 | chr14 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26398037 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030a0001c0001t0008g0031a0001c0001t0008g0032others(4): Show | 7 | 334 | 0.0210 | -9 | c.*89 others(20): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 2153 | chr2 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26399680 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029a0001c0001t0008g0030a0001c0001t0008g0031others(6): Show | 9 | 334 | 0.0270 | -9 | c.*10 others(22): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 3796 | chr2 | TogoVar | ||||||
SELENOV_chr19_39510139_39525675 | 39518286 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(112): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0012a0001c0002t0001g0017others(65): Show | 115 | 436 | 0.2638 | -9 | c.810 others(24): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SEMA3A_chr7_83950777_84199789 | 83976285 | TAAATATT others(2): Show |
T | intron_variant | MODIFIER | HG02155.hp1 NA18941.hp2 NA19083.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0010a0002c0006t0010 | a0001c0001t0010g0180a0002c0006t0010g0004a0002c0006t0010g0005 | 3 | 276 | 0.0109 | -9 | c.171 others(26): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84058101 | AAATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01106.hp1 others(41): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0035a0001c0001t0001g0055a0001c0001t0001g0064others(41): Show | 44 | 276 | 0.1594 | -9 | c.547 others(26): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84072675 | GGAGGTGA others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00741.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0122others(44): Show | 47 | 276 | 0.1703 | -9 | c.454 others(28): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84185519 | TAAAAAAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG02559.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0007a0001c0001t0009a0001c0003t0006others(4): Show | a0001c0001t0007g0158a0001c0001t0009g0162a0001c0001t0009g0165others(10): Show | 13 | 276 | 0.0471 | -9 | c.112 others(26): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83363859 | CATTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02897.hp2 HG03225.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0038a0001c0001t0076others(1): Show | a0001c0001t0023g0186a0001c0001t0023g0187a0001c0001t0023g0191others(3): Show | 6 | 226 | 0.0266 | -9 | c.*37 others(20): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 17/17 | 3718 | chr7 | TogoVar | |||||
SEMA3E_chr7_83358238_83654139 | 83600486 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0023others(35): Show | a0001c0001t0001g0088a0001c0001t0009g0092a0001c0001t0023g0187others(52): Show | 55 | 226 | 0.2434 | -9 | c.115 others(28): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar |