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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1G_chr16_23177745_23221883 | 23204332 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0275 | 1 | 151 | 0.0066 | 34 | c.107 others(53): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 100 | 0.0100 | 34 | c.107 others(53): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0287 | 1 | 100 | 0.0100 | 34 | c.107 others(53): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0247 | 1 | 100 | 0.0100 | 34 | c.107 others(53): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0294 | 1 | 100 | 0.0100 | 34 | c.107 others(53): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCT_chr11_621309_632181 | 628955 | T | TTCTTTCT others(27): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 377 | 0.0027 | 34 | c.-18 others(45): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1775 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192588 | A | ACGTATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0122 | 1 | 249 | 0.0040 | 34 | c.*11 others(47): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4691 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192588 | A | ACGTATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp2 others(20): Show |
a0001a0003a0004 | a0001c0003a0001c0012a0001c0022others(5): Show | a0001c0003t0003a0001c0012t0003a0001c0012t0041others(7): Show | a0001c0003t0003g0034 a0001c0003t0003g0039 a0001c0003t0003g0053 others(19): Show |
23 | 271 | 0.0849 | 34 | c.*11 others(47): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4691 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192591 | C | CGTATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 | 1 | 197 | 0.0051 | 34 | c.*11 others(47): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4688 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192592 | G | GTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0031a0001c0010t0068a0001c0010t0070others(1): Show | a0001c0010t0031g0006 a0001c0010t0068g0070 a0001c0010t0070g0037 others(1): Show |
4 | 184 | 0.0217 | 34 | c.*11 others(47): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4687 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43253752 | A | ACAGCGCG others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01069.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0008a0001c0010others(18): Show | a0001c0006t0015a0001c0006t0018a0001c0006t0069others(28): Show | a0001c0006t0015g0005 a0001c0006t0018g0166 a0001c0006t0069g0023 others(36): Show |
39 | 278 | 0.1403 | 34 | c.727 others(51): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 6/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03540.hp2 |
a0001a0003 | a0001c0005a0003c0008 | a0001c0005t0010a0003c0008t0006 | a0001c0005t0010g0039 a0003c0008t0006g0189 |
2 | 122 | 0.0164 | 34 | c.120 others(51): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0172 | 1 | 121 | 0.0083 | 34 | c.120 others(51): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 121 | 0.0083 | 34 | c.120 others(51): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0005 | 1 | 121 | 0.0083 | 34 | c.120 others(51): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0271 | 1 | 121 | 0.0083 | 34 | c.120 others(51): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262774 | A | ACCCCCAC others(27): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 NA18941.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
12 | 319 | 0.0376 | 34 | c.-38 others(45): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3678 | chr8 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262803 | G | GCCCCCCC others(27): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(57): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
60 | 295 | 0.2034 | 34 | c.-38 others(45): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3649 | chr8 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262839 | C | CCCCCCCC others(27): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 437 | 0.0023 | 34 | c.-37 others(45): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3613 | chr8 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389894 | T | TTTTCTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(34): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0000 a0001c0003t0001g0000 |
37 | 295 | 0.1254 | 34 | c.-19 others(45): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1946 | chr2 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01515.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0292 a0001c0001t0001g0293 others(9): Show |
12 | 85 | 0.1412 | 34 | c.61- others(51): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243294506 | C | CGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 22 | 0.0455 | 34 | c.675 others(51): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00733.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 others(10): Show |
15 | 17 | 0.8824 | 34 | c.-19 others(45): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 62 | 0.0161 | 34 | c.-48 others(45): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0048 |
2 | 63 | 0.0317 | 34 | c.-48 others(45): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 62 | 0.0161 | 34 | c.-48 others(45): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18947.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0174 a0001c0001t0001g0192 |
3 | 58 | 0.0517 | 34 | c.180 others(49): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3391966 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19043.hp2 |
a0023a0034 | a0023c0083a0034c0052 | a0023c0083t0044a0034c0052t0032 | a0023c0083t0044g0004 a0034c0052t0032g0107 |
2 | 21 | 0.0952 | 34 | c.298 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3687056 | A | AACACACA others(27): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0060 | 1 | 17 | 0.0588 | 34 | c.713 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4139539 | A | ATATATGT others(27): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02451.hp2 others(7): Show |
a0001a0002a0009others(1): Show | a0001c0010a0001c0017a0001c0025others(5): Show | a0001c0010t0060a0001c0017t0011a0001c0025t0024others(5): Show | a0001c0010t0060g0017 a0001c0017t0011g0051 a0001c0017t0011g0052 others(7): Show |
10 | 88 | 0.1136 | 34 | c.422 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4194222 | A | ACACGTAT others(27): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0010 | a0010c0082 | a0010c0082t0001 | a0010c0082t0001g0076 | 1 | 109 | 0.0092 | 34 | c.509 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4194375 | T | TGTATGTG others(27): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0004 | a0004c0076 | a0004c0076t0003 | a0004c0076t0003g0073 | 1 | 115 | 0.0087 | 34 | c.509 others(55): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4217106 | G | GCCACCCG others(27): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01516.hp2 NA19043.hp2 |
a0003a0007a0034 | a0003c0001a0007c0006a0034c0052 | a0003c0001t0059a0007c0006t0012a0034c0052t0032 | a0003c0001t0059g0026 a0007c0006t0012g0115 a0034c0052t0032g0107 |
3 | 116 | 0.0259 | 34 | c.554 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4217208 | G | GCCACTCG others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0038 | a0001c0038t0013 | a0001c0038t0013g0038 | 1 | 100 | 0.0100 | 34 | c.554 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4217389 | C | CACCAGGC others(27): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0075 | a0032c0075t0008 | a0032c0075t0008g0015 | 1 | 99 | 0.0101 | 34 | c.554 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4217508 | C | CACCAGGC others(27): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01516.hp2 HG02717.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0040a0001c0060a0002c0013others(3): Show | a0001c0040t0001a0001c0060t0041a0002c0013t0064others(3): Show | a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023 others(3): Show |
6 | 46 | 0.1304 | 34 | c.554 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4217576 | C | CACCACAC others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0025 | a0025c0081 | a0025c0081t0008 | a0025c0081t0008g0075 | 1 | 116 | 0.0086 | 34 | c.554 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355159 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18944.hp2 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0019a0001c0007t0002 | a0001c0004t0019g0132 a0001c0007t0002g0044 |
2 | 173 | 0.0116 | 34 | c.559 others(53): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18990.hp2 NA19066.hp2 |
a0001a0003a0009 | a0001c0001a0003c0112a0009c0113 | a0001c0001t0001a0003c0112t0019a0009c0113t0064 | a0001c0001t0001g0196 a0003c0112t0019g0102 a0009c0113t0064g0023 |
3 | 54 | 0.0556 | 34 | c.559 others(53): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0151 | 1 | 52 | 0.0192 | 34 | c.559 others(53): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0022 | 1 | 52 | 0.0192 | 34 | c.559 others(53): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDR42E2_chr16_22157506_22196751 | 22173903 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG03654.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0133 |
2 | 161 | 0.0124 | 34 | c.589 others(51): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 12 | 0.0833 | 34 | c.116 others(53): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483003 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0103 a0001c0002t0004g0104 |
2 | 114 | 0.0175 | 34 | c.116 others(53): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483003 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0218 | 1 | 113 | 0.0088 | 34 | c.116 others(53): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC31A_chr4_82813509_82896153 | 82841442 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03453.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0161 |
3 | 38 | 0.0789 | 34 | c.296 others(51): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841465 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 313 | 0.0032 | 34 | c.296 others(51): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841467 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 302 | 0.0033 | 34 | c.296 others(51): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49010124 | G | GACACACA others(27): Show |
intron_variant | MODIFIER | HG04115.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0122 a0002c0002t0004g0124 |
2 | 141 | 0.0142 | 34 | c.186 others(51): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 13/17 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0133 |
2 | 249 | 0.0080 | 34 | c.115 others(51): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar |