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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHCBP1_chr16_46573591_46626379 | 46610544 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 15 | 0.0667 | 30 | c.597 others(47): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
SHH_chr7_155794980_155817463 | 155795293 | G | GTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0141 | 1 | 53 | 0.0189 | 30 | c.*76 others(41): Show |
SHH | ENSG00000164690.8 | transcript | ENST00000297261.7 | protein_coding | 4686 | chr7 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48481441 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02145.hp1 HG02735.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0005a0002c0003t0001 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(7): Show |
10 | 214 | 0.0467 | 30 | c.234 others(47): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48486310 | A | ATGTTATA others(23): Show |
intron_variant | MODIFIER | HG03239.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 287 | 0.0070 | 30 | c.234 others(47): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(23): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0094 | 1 | 82 | 0.0122 | 30 | c.799 others(49): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 82 | 0.0122 | 30 | c.799 others(49): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970408 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(1): Show | a0001c0001t0001g0120 a0001c0001t0004g0006 a0001c0001t0026g0064 others(1): Show |
4 | 164 | 0.0244 | 30 | c.691 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13015890 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 204 | 0.0049 | 30 | c.691 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140128 | T | TCCCTCCC others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0156 | 1 | 174 | 0.0057 | 30 | c.692 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13142989 | C | CTTTTATT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02922.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0095 a0001c0001t0002g0177 a0001c0001t0028g0137 |
3 | 76 | 0.0395 | 30 | c.692 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44241646 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0212 | 1 | 162 | 0.0062 | 30 | c.*80 others(41): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 2018 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02809.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0020a0001c0001t0072others(3): Show | a0001c0001t0001g0175 a0001c0001t0020g0157 a0001c0001t0072g0261 others(3): Show |
6 | 110 | 0.0545 | 30 | c.600 others(49): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL2A_chr1_52628168_52662065 | 52645396 | C | CGTTTTGT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(91): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(83): Show |
94 | 372 | 0.2527 | 30 | c.322 others(47): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5844799 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0081 | 1 | 110 | 0.0091 | 30 | c.179 others(49): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158096909 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0038 a0001c0001t0018g0039 |
2 | 374 | 0.0053 | 30 | c.*11 others(41): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1117 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0001 |
2 | 62 | 0.0323 | 30 | c.-57 others(39): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 628650 | T | TGTCTCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0143 | a0001c0001t0143g0086 | 1 | 218 | 0.0046 | 30 | c.-22 others(41): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2140 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 636970 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0122 | 1 | 83 | 0.0120 | 30 | c.486 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHOX_chrX_625791_656584 | 648942 | C | CTTTCTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0135 | 1 | 158 | 0.0063 | 30 | c.*43 others(41): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 4310 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHPK_chr17_3603240_3641250 | 3635236 | A | AGGAAGGA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0256 | 1 | 360 | 0.0028 | 30 | c.168 others(45): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SHPRH_chr6_145879807_145969358 | 145934473 | T | TAAATAAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0015a0002c0004 | a0001c0015t0014a0002c0004t0003 | a0001c0015t0014g0250 a0002c0004t0003g0008 a0002c0004t0003g0045 others(5): Show |
12 | 132 | 0.0909 | 30 | c.299 others(47): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 13/29 | chr6 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9815571 | C | CCTATATC others(23): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 108 | 0.0093 | 30 | c.165 others(49): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 60 | 0.0167 | 30 | c.165 others(49): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76591637 | A | AACCTCTA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01928.hp1 HG01943.hp1 others(29): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0003c0002others(7): Show | a0001c0001t0008a0002c0003t0001a0003c0002t0001others(10): Show | a0001c0001t0008g0198 a0002c0003t0001g0085 a0002c0003t0001g0096 others(29): Show |
32 | 216 | 0.1481 | 30 | c.323 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(23): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0084 | 1 | 168 | 0.0060 | 30 | c.323 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18982.hp2 |
a0003a0016 | a0003c0002a0016c0032 | a0003c0002t0001a0016c0032t0008 | a0003c0002t0001g0003 a0016c0032t0008g0207 |
2 | 32 | 0.0625 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0015 | 1 | 31 | 0.0323 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0005 | a0005c0011 | a0005c0011t0034 | a0005c0011t0034g0144 | 1 | 31 | 0.0323 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76681594 | G | GGGGTGTG others(23): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0111 | 1 | 181 | 0.0055 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76681625 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02074.hp1 HG02083.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0002c0003others(3): Show | a0001c0001t0002a0001c0019t0003a0002c0003t0001others(6): Show | a0001c0001t0002g0021 a0001c0001t0002g0117 a0001c0019t0003g0211 others(8): Show |
11 | 39 | 0.2821 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACACAC others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0003g0225 others(4): Show |
7 | 8 | 0.8750 | 30 | c.167 others(49): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116893576 | G | GCACGCAC others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0024 | 1 | 2 | 0.5000 | 30 | c.167 others(49): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0267 a0001c0001t0010g0137 |
2 | 14 | 0.1429 | 30 | c.135 others(49): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843032 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03490.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0023 a0001c0001t0007g0220 a0001c0001t0007g0221 |
3 | 206 | 0.0146 | 30 | c.135 others(47): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45843034 | C | CTCTCTGT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0080 a0001c0001t0002g0193 a0001c0001t0005g0075 others(4): Show |
7 | 80 | 0.0875 | 30 | c.135 others(47): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401194 | A | ACCCACCC others(23): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 113 | 0.0088 | 30 | c.*47 others(41): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4521 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401194 | A | ACCCGCCC others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0003c0005t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
38 | 150 | 0.2533 | 30 | c.*47 others(41): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4521 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401199 | G | CCCCGCTC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(9): Show |
13 | 83 | 0.1566 | 30 | c.*46 others(41): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4517 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401707 | G | GCCCCGCT others(23): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 236 | 0.0042 | 30 | c.*41 others(41): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4008 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0361 | 1 | 131 | 0.0076 | 30 | c.*30 others(41): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917827 | G | GAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01261.hp2 others(19): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0155 a0001c0001t0001g0157 others(19): Show |
22 | 55 | 0.4000 | 30 | c.616 others(47): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938373 | G | GGAGGAGA others(23): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03239.hp1 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0010 | a0002c0004t0005g0040 a0002c0004t0005g0174 a0002c0004t0005g0176 others(8): Show |
11 | 310 | 0.0355 | 30 | c.455 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938373 | G | GGAGGAGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02280.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0004a0002c0003t0006others(2): Show | a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0002t0004g0312 others(10): Show |
13 | 312 | 0.0417 | 30 | c.455 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938378 | G | GGAGGAGA others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03225.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0004a0003c0005t0004 | a0001c0002t0004g0046 a0003c0005t0004g0351 |
2 | 225 | 0.0089 | 30 | c.455 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013903 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03710.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0004a0002c0004t0010 | a0001c0002t0004g0050 a0002c0004t0010g0191 |
2 | 242 | 0.0083 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013904 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18989.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0171 others(1): Show |
4 | 361 | 0.0111 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013906 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0129 | 1 | 354 | 0.0028 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0039 | 1 | 229 | 0.0044 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 229 | 0.0044 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 199 | 0.0050 | 30 | c.274 others(49): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar |