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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1293731 | A | ACGACCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0018a0002c0002others(12): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(13): Show | a0001c0001t0001g0252 a0001c0018t0001g0251 a0002c0002t0001g0003 others(59): Show |
62 | 290 | 0.2138 | 20 | c.*21 others(31): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 1707 | chr1 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1293731 | A | ACGCCCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(120): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0012a0001c0018others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0160 a0001c0001t0001g0162 others(119): Show |
123 | 290 | 0.4241 | 20 | c.*21 others(31): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 1707 | chr1 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1293734 | C | ACCCTGCC others(13): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01358.hp2 HG02165.hp2 others(5): Show |
a0002a0027 | a0002c0002a0027c0027 | a0002c0002t0001a0027c0027t0001 | a0002c0002t0001g0019 a0002c0002t0001g0031 a0002c0002t0001g0041 others(5): Show |
8 | 290 | 0.0276 | 20 | c.*21 others(31): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 1709 | chr1 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23180597 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG02109.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0204 a0001c0003t0002g0115 a0001c0003t0002g0194 |
3 | 320 | 0.0094 | 20 | c.-22 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 2147 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23181615 | A | AAAAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02896.hp1 |
a0002 | a0002c0006a0002c0010 | a0002c0006t0007a0002c0010t0003 | a0002c0006t0007g0022 a0002c0010t0003g0025 |
2 | 320 | 0.0063 | 20 | c.-12 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1129 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23181743 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0275 | 1 | 320 | 0.0031 | 20 | c.-11 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1001 | chr16 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52945744 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0047 a0001c0004t0011g0048 |
2 | 280 | 0.0071 | 20 | c.128 others(37): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52986986 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 | 1 | 280 | 0.0036 | 20 | c.974 others(37): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCPEP1_chr17_56973131_57011768 | 56977380 | G | GACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0172 |
2 | 380 | 0.0053 | 20 | c.-78 others(29): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 750 | chr17 | TogoVar | |||||||
SCPEP1_chr17_56973131_57011768 | 56977380 | G | GACAGACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | 20 | c.-78 others(29): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 750 | chr17 | TogoVar | |||||||
SCPEP1_chr17_56973131_57011768 | 56978047 | T | TCAGGCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 380 | 0.0053 | 20 | c.-11 others(29): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 83 | chr17 | TogoVar | |||||||
SCPEP1_chr17_56973131_57011768 | 56978083 | A | ACCCGCAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01099.hp1 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0021 others(29): Show |
75 | 380 | 0.1974 | 20 | c.-77 others(27): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 47 | chr17 | TogoVar | |||||||
SCRG1_chr4_173379701_173404116 | 173396741 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0021 a0001c0001t0016g0149 |
4 | 380 | 0.0105 | 20 | c.-15 others(37): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
SCRG1_chr4_173379701_173404116 | 173399465 | A | AGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0001t0002g0116 others(14): Show |
19 | 380 | 0.0500 | 20 | c.-43 others(29): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 350 | chr4 | TogoVar | |||||||
SCRIB_chr8_143785925_143820773 | 143798375 | A | AGGATGCG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(35): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0066a0001c0068others(7): Show | a0001c0001t0001a0001c0066t0001a0001c0068t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0043 others(23): Show |
38 | 387 | 0.0982 | 20 | c.360 others(39): Show |
SCRIB | ENSG00000180900.20 | transcript | ENST00000356994.7 | protein_coding | 24/36 | chr8 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29966159 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 274 | 0.0037 | 20 | c.159 others(37): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29990389 | C | CTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 NA18961.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0242 a0001c0001t0008g0246 a0001c0001t0008g0247 others(1): Show |
4 | 274 | 0.0146 | 20 | c.-75 others(29): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 589 | chr7 | TogoVar | |||||||
SCRT1_chr8_144325565_144341482 | 144341384 | A | AAAAACAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 398 | 0.0025 | 20 | c.-52 others(31): Show |
SCRT1 | ENSG00000261678.3 | transcript | ENST00000569446.3 | protein_coding | 4903 | chr8 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119479156 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01074.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 others(38): Show |
41 | 290 | 0.1414 | 20 | c.194 others(35): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628897 | T | TTTTCTTT others(13): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 411 | 0.0049 | 20 | c.-17 others(31): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1717 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281485 | T | TCAGTCAC others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0087 a0003c0001t0001g0088 |
2 | 280 | 0.0071 | 20 | c.484 others(37): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43292556 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0241 | 1 | 280 | 0.0036 | 20 | c.350 others(37): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9051237 | C | CCTACCTA others(13): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0026 | 1 | 358 | 0.0028 | 20 | c.153 others(37): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 13/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 | 1 | 358 | 0.0028 | 20 | c.120 others(37): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18971.hp2 NA19007.hp1 |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0001a0002c0001t0008 | a0001c0005t0001g0001 a0002c0001t0008g0270 |
3 | 358 | 0.0084 | 20 | c.120 others(37): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35217236 | G | GGGGTGGG others(13): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0126 | 1 | 290 | 0.0035 | 20 | c.85+ others(35): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35226480 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0190 a0001c0001t0029g0150 |
2 | 290 | 0.0069 | 20 | c.86- others(35): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227389878 | T | TTTTTCTT others(13): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 454 | 0.0022 | 20 | c.-19 others(31): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1930 | chr2 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227610047 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 462 | 0.0022 | 20 | c.*44 others(31): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 4490 | chr2 | TogoVar | |||||||
SCYGR4_chr2_227612498_227622815 | 227618665 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 458 | 0.0022 | 20 | c.*85 others(29): Show |
SCYGR4 | ENSG00000284631.2 | transcript | ENST00000641801.2 | protein_coding | 851 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227669623 | A | ATAAACTA others(13): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 HG04184.hp2 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0000 a0003c0004t0001g0000 |
3 | 460 | 0.0065 | 20 | c.*25 others(31): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2563 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227741967 | T | TATAAAAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0009 | a0001c0001t0001a0005c0007t0001a0006c0009t0001 | a0001c0001t0001g0000 a0005c0007t0001g0000 a0006c0009t0001g0000 |
134 | 457 | 0.2932 | 20 | c.-39 others(31): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 3926 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227749841 | A | ATCCTTCC others(13): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01256.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(3): Show |
31 | 457 | 0.0678 | 20 | c.*36 others(31): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 3622 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227750651 | C | CAATAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(218): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0008t0001g0000 others(4): Show |
221 | 457 | 0.4836 | 20 | c.*44 others(31): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4432 | chr2 | TogoVar | |||||||
SCYL2_chr12_100262177_100346715 | 100281019 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0204 | 1 | 220 | 0.0046 | 20 | c.-28 others(37): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75978982 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03710.hp1 HG04199.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0007t0005 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0003g0246 others(9): Show |
12 | 376 | 0.0319 | 20 | c.295 others(37): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75984778 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01943.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0009a0003c0004t0003others(3): Show | a0001c0001t0003g0112 a0001c0001t0003g0172 a0001c0001t0009g0017 others(6): Show |
10 | 376 | 0.0266 | 20 | c.91- others(35): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994061 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG03225.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0147 a0001c0001t0002g0146 a0001c0001t0002g0148 others(1): Show |
4 | 376 | 0.0106 | 20 | c.-32 others(31): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3117 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96540340 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0331 others(4): Show |
7 | 334 | 0.0210 | 20 | c.60+ others(37): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96540340 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0295 others(3): Show |
6 | 334 | 0.0180 | 20 | c.60+ others(37): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02572.hp2 HG02602.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0097 a0001c0001t0003g0225 a0001c0001t0004g0056 others(3): Show |
6 | 334 | 0.0180 | 20 | c.61- others(37): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576368 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0053 a0002c0002t0002g0078 |
2 | 334 | 0.0060 | 20 | c.61- others(37): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC4_chr20_45320288_45353424 | 45346072 | T | TCAACAAC others(13): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0062 | 1 | 418 | 0.0024 | 20 | c.60+ others(35): Show |
SDC4 | ENSG00000124145.6 | transcript | ENST00000372733.3 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243294501 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 189 | 0.0053 | 20 | c.675 others(37): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243294506 | C | CGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0163 a0001c0001t0002g0103 others(17): Show |
20 | 189 | 0.1058 | 20 | c.675 others(37): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243439622 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 189 | 0.0053 | 20 | c.198 others(41): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2L1_chr22_21637302_21649299 | 21639255 | A | AAAAACAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01123.hp2 others(20): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
23 | 430 | 0.0535 | 20 | c.-30 others(31): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 3046 | chr22 | TogoVar | |||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(39): Show |
81 | 398 | 0.2035 | 20 | c.-19 others(31): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0109 |
7 | 238 | 0.0294 | 20 | c.37- others(35): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0052 others(59): Show |
64 | 402 | 0.1592 | 20 | c.*26 others(31): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar |