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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0329 | 1 | 340 | 0.0029 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20805.hp1 |
a0001a0003 | a0001c0002a0003c0028 | a0001c0002t0001a0003c0028t0004 | a0001c0002t0001g0109 a0003c0028t0004g0044 |
2 | 340 | 0.0059 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555106 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18959.hp1 |
a0001a0002 | a0001c0002a0002c0071 | a0001c0002t0001a0002c0071t0001 | a0001c0002t0001g0271 a0002c0071t0001g0038 |
2 | 340 | 0.0059 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38577785 | C | CTTTCTCA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0116 | 1 | 340 | 0.0029 | 11 | c.339 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38577785 | C | CTTTCTCA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(145): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(57): Show | a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0212 others(143): Show |
148 | 340 | 0.4353 | 11 | c.339 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51679721 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 202 | 0.0050 | 11 | c.277 others(28): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51780565 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0051 | 1 | 202 | 0.0050 | 11 | c.382 others(26): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166199975 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01358.hp1 HG01358.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0016others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0016t0001others(3): Show | a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0003t0001g0162 others(4): Show |
7 | 296 | 0.0237 | 11 | c.477 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166297196 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0007 | a0007c0060 | a0007c0060t0004 | a0007c0060t0004g0248 | 1 | 296 | 0.0034 | 11 | c.902 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166311377 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0171 | 1 | 296 | 0.0034 | 11 | c.258 others(26): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340541 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 296 | 0.0034 | 11 | c.-50 others(30): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23301366 | A | AAAAAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0084 a0001c0003t0001g0083 a0002c0004t0001g0082 |
3 | 306 | 0.0098 | 11 | c.-10 others(22): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 935 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23305534 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0099 a0002c0004t0001g0082 |
2 | 306 | 0.0065 | 11 | c.-9+ others(26): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23346200 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0001a0002c0007t0001 | a0001c0001t0001g0108 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show |
5 | 306 | 0.0163 | 11 | c.-8- others(26): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365617 | G | GAGAAAGA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01934.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0004 | a0001c0001t0001a0001c0014t0001a0002c0004t0001 | a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0206 others(4): Show |
7 | 306 | 0.0229 | 11 | c.777 others(28): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284117 | G | GGGGGGTT others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0281 | 1 | 290 | 0.0035 | 11 | c.464 others(24): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284172 | G | GGTGTTGG others(4): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0130 | 1 | 290 | 0.0035 | 11 | c.464 others(24): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289434 | C | CGTGTCTC others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0026 | a0026c0057 | a0026c0057t0003 | a0026c0057t0003g0257 | 1 | 290 | 0.0035 | 11 | c.166 others(28): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23180597 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0239 |
2 | 320 | 0.0063 | 11 | c.-22 others(22): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 2147 | chr16 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52934592 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02723.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0004 | a0001c0001t0003g0255 a0001c0004t0004g0145 a0001c0004t0004g0146 |
3 | 280 | 0.0107 | 11 | c.69+ others(26): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987006 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 280 | 0.0036 | 11 | c.974 others(28): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987007 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG02083.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0064 a0001c0001t0002g0088 a0001c0002t0002g0097 others(10): Show |
13 | 280 | 0.0464 | 11 | c.974 others(28): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52999815 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01928.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0002g0182 a0001c0001t0003g0227 a0001c0001t0003g0237 others(10): Show |
13 | 280 | 0.0464 | 11 | c.108 others(32): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRG1_chr4_173379701_173404116 | 173396712 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 380 | 0.0026 | 11 | c.-15 others(28): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192633 | T | TATATATA others(4): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0041 | a0001c0041t0040 | a0001c0041t0040g0134 | 1 | 280 | 0.0036 | 11 | c.*11 others(24): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4646 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43273561 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02258.hp1 others(4): Show |
a0001a0002a0005 | a0001c0010a0001c0019a0001c0055others(3): Show | a0001c0010t0091a0001c0019t0008a0001c0055t0063others(4): Show | a0001c0010t0091g0275 a0001c0019t0008g0264 a0001c0055t0063g0234 others(4): Show |
7 | 280 | 0.0250 | 11 | c.485 others(30): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43295987 | A | AGGGCAGG others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(69): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0006others(24): Show | a0001c0003t0003a0001c0004t0004a0001c0004t0016others(42): Show | a0001c0003t0003g0123 a0001c0004t0004g0233 a0001c0004t0016g0008 others(69): Show |
72 | 280 | 0.2571 | 11 | c.350 others(28): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0137 | 1 | 358 | 0.0028 | 11 | c.120 others(28): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9058595 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0165 | 1 | 358 | 0.0028 | 11 | c.109 others(28): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 9/22 | chr11 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35214317 | G | GCCCCCTC others(4): Show |
5_prime_UTR_variant | MODIFIER | NA18954.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0213 a0001c0001t0017g0216 |
2 | 290 | 0.0069 | 11 | c.-93 others(18): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/22 | 82 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCUBE3_chr6_35208956_35258079 | 35217222 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18964.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0122 a0002c0002t0001g0123 |
2 | 290 | 0.0069 | 11 | c.85+ others(26): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCUBE3_chr6_35208956_35258079 | 35226479 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0173 a0001c0001t0010g0175 |
2 | 290 | 0.0069 | 11 | c.86- others(26): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144266177 | G | GTCCCGCT others(4): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 440 | 0.0114 | 11 | c.-43 others(20): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 275 | chr8 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227610047 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18983.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0000 a0002c0003t0001g0000 |
3 | 462 | 0.0065 | 11 | c.*44 others(22): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 4490 | chr2 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169850980 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp1 NA18973.hp1 NA18985.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0028a0001c0001t0042a0004c0005t0075 | a0001c0001t0028g0091 a0001c0001t0028g0095 a0001c0001t0028g0098 others(3): Show |
6 | 418 | 0.0144 | 11 | c.*27 others(22): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2732 | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169851045 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0098a0001c0001t0099 | a0001c0001t0098g0301 a0001c0001t0099g0270 |
2 | 418 | 0.0048 | 11 | c.*26 others(22): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2667 | chr1 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75978982 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(31): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0008a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0008g0158 a0001c0002t0001g0001 a0001c0002t0001g0013 others(27): Show |
34 | 376 | 0.0904 | 11 | c.295 others(28): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75984778 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 376 | 0.0027 | 11 | c.91- others(26): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994043 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0263 |
2 | 376 | 0.0053 | 11 | c.-32 others(22): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3099 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AAAAATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 376 | 0.0027 | 11 | c.-32 others(22): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96532412 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 a0002c0002t0002g0083 |
2 | 334 | 0.0060 | 11 | c.60+ others(28): 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(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0205 a0001c0001t0001g0210 others(16): Show |
19 | 334 | 0.0569 | 11 | c.61- others(28): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576379 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01070.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0003t0001g0050 a0001c0003t0001g0297 a0001c0003t0002g0115 others(6): Show |
9 | 334 | 0.0270 | 11 | c.61- others(28): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCBP2_chr20_1304909_1334139 | 1313919 | C | CCCTCTCC others(4): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0012 | a0012c0014 | a0012c0014t0002 | a0012c0014t0002g0055 | 1 | 430 | 0.0023 | 11 | c.226 others(26): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 4/8 | chr20 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243296535 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 189 | 0.0053 | 11 | c.675 others(28): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243327407 | T | TTAAAATT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01106.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(15): Show |
18 | 189 | 0.0952 | 11 | c.106 others(30): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18963.hp1 NA18988.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0144 |
5 | 398 | 0.0126 | 11 | c.-19 others(22): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97142042 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01099.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0321 others(25): Show |
28 | 402 | 0.0697 | 11 | c.174 others(30): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0010 a0001c0001t0002g0217 a0002c0002t0004g0052 others(1): Show |
4 | 370 | 0.0108 | 11 | c.-17 others(22): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70573264 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(6): Show | a0001c0001t0001g0049 a0002c0002t0003g0025 a0002c0002t0003g0058 others(24): Show |
29 | 370 | 0.0784 | 11 | c.65- others(26): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |