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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1289785 | C | CCGTGTCT others(27): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289785 | C | CCGTGTCT others(27): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289823 | C | CCGTGTCT others(27): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0099 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289966 | C | CCGTGTCT others(27): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0020 | a0020c0030 | a0020c0030t0002 | a0020c0030t0002g0103 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCGTGTCC others(27): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0143 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCGTGTCT others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0124 | 1 | 290 | 0.0035 | 34 | c.166 others(51): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1G_chr16_23177745_23221883 | 23204332 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0300 | 1 | 320 | 0.0031 | 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 | 23204332 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0297 | 1 | 320 | 0.0031 | 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 | 23204332 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0281 | 1 | 320 | 0.0031 | 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 | a0001c0002t0003g0296 | 1 | 320 | 0.0031 | 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 | a0001c0002t0003g0298 | 1 | 320 | 0.0031 | 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 | a0001c0001t0005g0249 | 1 | 320 | 0.0031 | 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 | a0001c0002t0003g0305 | 1 | 320 | 0.0031 | 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 | 411 | 0.0024 | 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 | a0001c0003t0003g0123 | 1 | 280 | 0.0036 | 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 | a0001c0003t0003a0001c0012t0003a0001c0012t0043others(7): Show | a0001c0003t0003g0035a0001c0003t0003g0037a0001c0003t0003g0050others(19): Show | 23 | 280 | 0.0821 | 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 | 280 | 0.0036 | 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 | a0001c0010t0033a0001c0010t0074a0001c0010t0076others(1): Show | a0001c0010t0033g0006a0001c0010t0074g0071a0001c0010t0076g0040others(1): Show | 4 | 280 | 0.0143 | 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 | a0001c0006t0015a0001c0006t0019a0001c0006t0075others(29): Show | a0001c0006t0015g0005a0001c0006t0019g0168a0001c0006t0075g0024others(36): Show | 39 | 280 | 0.1393 | 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 |
a0005a0008 | a0005c0005a0008c0008 | a0005c0005t0010a0008c0008t0006 | a0005c0005t0010g0037a0008c0008t0006g0189 | 2 | 358 | 0.0056 | 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 | a0008 | a0008c0008 | a0008c0008t0006 | a0008c0008t0006g0172 | 1 | 358 | 0.0028 | 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 | 358 | 0.0028 | 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 | a0003c0003t0005g0203 | 1 | 358 | 0.0028 | 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 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 358 | 0.0028 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002 | 12 | 440 | 0.0273 | 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 |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(6): Show | 60 | 440 | 0.1364 | 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 | 440 | 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 | a0001c0001a0001c0003 | a0001c0001t0000a0001c0003t0000 | a0001c0001t0000g0000a0001c0003t0000g0000 | 37 | 454 | 0.0815 | 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 | a0001c0001t0001g0013a0001c0001t0001g0293a0001c0001t0001g0294others(9): Show | 12 | 334 | 0.0359 | 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 | 189 | 0.0053 | 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 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0018others(10): Show | 15 | 398 | 0.0377 | 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 | a0001c0001t0001g0223 | 1 | 330 | 0.0030 | 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 | a0001c0001t0001g0043a0001c0001t0001g0047 | 2 | 330 | 0.0061 | 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 | a0001c0001t0009g0228 | 1 | 330 | 0.0030 | 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 | a0001c0001t0001g0069a0001c0001t0001g0173a0001c0001t0001g0191 | 3 | 330 | 0.0091 | 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 |
a0014a0028 | a0014c0083a0028c0052 | a0014c0083t0044a0028c0052t0032 | a0014c0083t0044g0004a0028c0052t0032g0107 | 2 | 116 | 0.0172 | 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 | 116 | 0.0086 | 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 |
a0001a0002a0010others(1): Show | a0001c0010a0001c0017a0001c0025others(5): Show | a0001c0010t0060a0001c0017t0011a0001c0025t0024others(5): Show | a0001c0010t0060g0017a0001c0017t0011g0051a0001c0017t0011g0052others(7): Show | 10 | 116 | 0.0862 | 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 | a0009 | a0009c0082 | a0009c0082t0001 | a0009c0082t0001g0076 | 1 | 116 | 0.0086 | 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 | a0005 | a0005c0076 | a0005c0076t0003 | a0005c0076t0003g0072 | 1 | 116 | 0.0086 | 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 |
a0003a0006a0028 | a0003c0001a0006c0006a0028c0052 | a0003c0001t0059a0006c0006t0012a0028c0052t0032 | a0003c0001t0059g0024a0006c0006t0012g0115a0028c0052t0032g0107 | 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 | 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 | |||||
SDK1_chr7_3296252_4274000 | 4217389 | C | CACCAGGC others(27): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0075 | a0032c0075t0008 | a0032c0075t0008g0016 | 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 | |||||
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 | a0001c0040t0001g0040a0001c0060t0041g0080a0002c0013t0064g0026others(3): Show | 6 | 116 | 0.0517 | 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 | a0034 | a0034c0081 | a0034c0081t0008 | a0034c0081t0008g0075 | 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 | a0001c0004t0019g0130a0001c0007t0002g0043 | 2 | 204 | 0.0098 | 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 | a0001c0001t0001g0197a0003c0112t0019g0101a0009c0113t0064g0023 | 3 | 204 | 0.0147 | 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 | a0001c0015t0004g0150 | 1 | 204 | 0.0049 | 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 | 204 | 0.0049 | 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 | a0001c0001t0001g0102a0001c0001t0001g0133 | 2 | 356 | 0.0056 | 34 | c.589 others(51): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |