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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC45A4_chr8_141202174_141313288 | 141203315 | G | GGAGAGAG others(43): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0061 | 1 | 188 | 0.0053 | 50 | c.*82 others(61): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3858 | chr8 | TogoVar | ||||||
SLC4A1_chr17_44243390_44273135 | 44263721 | C | CCTTCCTT others(43): Show |
intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0005a0001c0016t0009 | a0001c0001t0005g0260a0001c0016t0009g0243 | 2 | 406 | 0.0049 | 50 | c.-68 others(65): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
SLC4A5_chr2_74211242_74348416 | 74220327 | A | AGTTGATC others(43): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0190 | 1 | 282 | 0.0036 | 50 | c.*33 others(67): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 30/30 | chr2 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24849593 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 378 | 0.0027 | 50 | c.-25 others(67): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A12_chr11_26662020_26727060 | 26669187 | T | TTTTCTTT others(43): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp2 HG03239.hp2 HG04199.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0020a0001c0004t0136 | a0001c0003t0020g0058a0001c0003t0020g0132a0001c0003t0020g0135others(2): Show | 5 | 412 | 0.0121 | 50 | c.*19 others(61): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 15/15 | 1914 | chr11 | TogoVar | |||||
SLC5A12_chr11_26662020_26727060 | 26669187 | T | TTTTCTTT others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 NA18953.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0007a0001c0037others(1): Show | a0001c0002t0043a0001c0007t0140a0001c0037t0123others(1): Show | a0001c0002t0043g0013a0001c0007t0140g0369a0001c0037t0123g0352others(2): Show | 6 | 412 | 0.0146 | 50 | c.*19 others(61): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 15/15 | 1914 | chr11 | TogoVar | |||||
SLC5A12_chr11_26662020_26727060 | 26669187 | T | TTTTCTTT others(43): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0119 | a0001c0005t0119g0069 | 1 | 412 | 0.0024 | 50 | c.*19 others(61): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 15/15 | 1914 | chr11 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873384 | T | TTTATCCT others(43): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0019a0001c0024 | a0001c0002t0002a0001c0019t0002a0001c0024t0005 | a0001c0002t0002g0017a0001c0019t0002g0058a0001c0024t0005g0045 | 3 | 362 | 0.0083 | 50 | c.757 others(67): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | chr3 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873394 | C | CCTATCCT others(43): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0021 | a0001c0021t0026 | a0001c0021t0026g0329 | 1 | 362 | 0.0028 | 50 | c.757 others(67): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873404 | C | CCTATCCT others(43): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03942.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0188a0001c0003t0003g0189 | 2 | 362 | 0.0055 | 50 | c.757 others(67): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873627 | A | ATCCTATC others(43): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0020 | a0001c0020t0023 | a0001c0020t0023g0054 | 1 | 362 | 0.0028 | 50 | c.757 others(67): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A15_chr12_84854491_84917799 | 84910927 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0195 | 1 | 218 | 0.0046 | 50 | c.-18 others(69): Show |
SLC6A15 | ENSG00000072041.18 | transcript | ENST00000266682.10 | protein_coding | 1/11 | chr12 | TogoVar | ||||||
SLC6A15_chr12_84854491_84917799 | 84910927 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0189a0001c0002t0004g0190 | 2 | 218 | 0.0092 | 50 | c.-18 others(69): Show |
SLC6A15 | ENSG00000072041.18 | transcript | ENST00000266682.10 | protein_coding | 1/11 | chr12 | TogoVar | ||||||
SLC6A2_chr16_55650988_55711192 | 55711184 | T | TATACATA others(43): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 HG02622.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0016a0001c0001t0004g0263a0001c0001t0004g0309others(3): Show | 7 | 398 | 0.0176 | 50 | c.*88 others(61): Show |
SLC6A2 | ENSG00000103546.19 | transcript | ENST00000568943.6 | protein_coding | 4993 | chr16 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1422723 | G | GTGCTGCC others(43): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0041a0001c0011t0013a0001c0012t0046 | a0001c0001t0041g0018a0001c0011t0013g0183a0001c0012t0046g0363 | 3 | 373 | 0.0080 | 50 | c.654 others(65): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40197815 | T | TAGGATCT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(116): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0007a0001c0001t0001g0096a0001c0001t0001g0146others(116): Show | 119 | 236 | 0.5042 | 50 | c.180 others(71): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40197874 | T | TTGACAAA others(43): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0227a0001c0001t0013g0228a0001c0001t0013g0229 | 3 | 236 | 0.0127 | 50 | c.180 others(71): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40252796 | G | GTGTATAT others(43): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0069a0001c0001t0122others(6): Show | a0001c0001t0057g0170a0001c0001t0069g0224a0001c0001t0122g0104others(6): Show | 9 | 236 | 0.0381 | 50 | c.180 others(71): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49884227 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 360 | 0.0028 | 50 | c.149 others(67): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC9A9_chr3_143260222_143853468 | 143448967 | A | ATTATATT others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 108 | 0.0093 | 50 | c.146 others(71): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112205624 | G | GAAACATC others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(108): Show |
a0002a0006a0009others(3): Show | a0002c0001a0006c0008a0009c0012others(3): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(6): Show | a0002c0001t0001g0005a0002c0001t0001g0014a0002c0001t0001g0015others(107): Show | 111 | 372 | 0.2984 | 50 | c.198 others(69): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 16/28 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112205624 | G | GAAACCTC others(43): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(187): Show |
a0001a0003a0008others(2): Show | a0001c0002a0001c0006a0001c0013others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0024others(181): Show | 190 | 372 | 0.5108 | 50 | c.198 others(69): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 16/28 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112205624 | G | GAAACCTC others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01074.hp1 others(13): Show |
a0005a0007 | a0005c0007a0007c0009 | a0005c0007t0001a0005c0007t0008a0007c0009t0001 | a0005c0007t0001g0026a0005c0007t0001g0027a0005c0007t0001g0029others(13): Show | 16 | 372 | 0.0430 | 50 | c.198 others(69): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 16/28 | chr3 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(43): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 NA19000.hp2 NA19003.hp2 others(1): Show |
a0002a0012 | a0002c0003a0012c0018 | a0002c0003t0002a0002c0003t0003a0012c0018t0003 | a0002c0003t0002g0207a0002c0003t0003g0006a0002c0003t0003g0263others(1): Show | 4 | 284 | 0.0141 | 50 | c.*21 others(61): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(43): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0066a0005c0007t0002g0067 | 2 | 284 | 0.0070 | 50 | c.*21 others(61): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(43): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 284 | 0.0035 | 50 | c.*21 others(61): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92143399 | A | ATAATATA others(43): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02895.hp1 HG02922.hp2 |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0008a0001c0010t0012a0002c0005t0009 | a0001c0001t0008g0107a0001c0010t0012g0069a0002c0005t0009g0178 | 3 | 190 | 0.0158 | 50 | c.151 others(69): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69772563 | A | AGAAAGGA others(43): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0074 | a0002c0002t0074g0026 | 1 | 280 | 0.0036 | 50 | c.908 others(69): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168884549 | G | GATATATA others(43): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0014 | a0001c0014t0009 | a0001c0014t0009g0112 | 1 | 132 | 0.0076 | 50 | c.414 others(67): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLTM_chr15_58874050_58938679 | 58882181 | C | CAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261a0001c0001t0002g0324 | 2 | 386 | 0.0052 | 50 | c.299 others(69): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 20/20 | chr15 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39619528 | C | CTATATCA others(43): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0292a0001c0001t0001g0312a0001c0001t0012g0267 | 3 | 344 | 0.0087 | 50 | c.-35 others(69): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44142132 | C | CCTCGGCT others(43): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01981.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0111 | 3 | 380 | 0.0079 | 50 | c.*17 others(61): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55500886 | T | TGTAATAT others(43): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 340 | 0.0029 | 50 | c.*17 others(69): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6387203 | C | CTGGGCGA others(43): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 388 | 0.0026 | 50 | c.-33 others(61): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3270 | chr11 | TogoVar | ||||||
SMPD2_chr6_109435724_109448919 | 109448097 | G | GACACACA others(43): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 438 | 0.0023 | 50 | c.*41 others(61): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 4179 | chr6 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33039536 | C | CATATATA others(43): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 418 | 0.0024 | 50 | c.*77 others(61): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2228 | chr9 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246233636 | C | CTTCAATT others(43): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 150 | 0.0067 | 50 | c.531 others(69): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246348077 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02027.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008a0001c0002t0002g0078 | 2 | 150 | 0.0133 | 50 | c.228 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83628222 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 366 | 0.0027 | 50 | c.766 others(67): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036042 | G | GGGGGCGG others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG03486.hp2 others(1): Show |
a0002 | a0002c0009a0002c0010a0002c0064 | a0002c0009t0004a0002c0010t0016a0002c0064t0060 | a0002c0009t0004g0332a0002c0010t0016g0033a0002c0010t0016g0157others(1): Show | 4 | 344 | 0.0116 | 50 | c.806 others(65): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(43): Show |
intron_variant | MODIFIER | HG01070.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0305a0001c0001t0002g0018 | 2 | 344 | 0.0058 | 50 | c.806 others(65): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(228): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(130): Show | a0001c0001t0001g0098a0001c0001t0001g0163a0001c0001t0001g0166others(227): Show | 231 | 344 | 0.6715 | 50 | c.806 others(65): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241036056 | G | GTCACGGG others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0008 | a0008c0081 | a0008c0081t0021 | a0008c0081t0021g0031 | 1 | 344 | 0.0029 | 50 | c.806 others(65): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241052585 | G | GGGCCCAA others(43): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0284 | 1 | 344 | 0.0029 | 50 | c.208 others(67): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(43): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0073 | a0001c0001t0037g0033a0001c0001t0073g0186 | 3 | 394 | 0.0076 | 50 | c.*25 others(61): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43296423 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0201 | 1 | 258 | 0.0039 | 50 | c.-16 others(69): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0027 | 1 | 218 | 0.0046 | 50 | c.580 others(69): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1221989 | G | GTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0190 | 1 | 190 | 0.0053 | 50 | c.719 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222087 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0176a0005c0006t0001g0189 | 2 | 190 | 0.0105 | 50 | c.719 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222109 | C | CTCTCTGT others(43): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0070 | 1 | 190 | 0.0053 | 50 | c.719 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |