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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHROOM3_chr4_76430229_76788253 | 76608528 | GGCATAGC others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01070.hp2 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0002a0001c0001t0027a0002c0002t0001others(12): Show | a0001c0001t0002g0136 a0001c0001t0002g0181 a0001c0001t0027g0053 others(21): Show |
24 | 218 | 0.1101 | -10 | c.323 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608658 | TAGCATAG others(3): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0217 a0001c0017t0011g0218 |
2 | 218 | 0.0092 | -10 | c.323 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608673 | TAGCACAG others(3): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0017 | a0017c0046 | a0017c0046t0006 | a0017c0046t0006g0157 | 1 | 218 | 0.0046 | -10 | c.323 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608723 | CAGCACAG others(3): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02976.hp2 others(4): Show |
a0001a0003a0009others(4): Show | a0001c0001a0003c0003a0009c0021others(4): Show | a0001c0001t0002a0003c0003t0001a0009c0021t0009others(4): Show | a0001c0001t0002g0105 a0003c0003t0001g0091 a0009c0021t0009g0132 others(4): Show |
7 | 218 | 0.0321 | -10 | c.323 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608728 | CAGCATAG others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0025 | a0025c0041 | a0025c0041t0013 | a0025c0041t0013g0097 | 1 | 218 | 0.0046 | -10 | c.323 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76709654 | AGTTGGCA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 218 | 0.0046 | -10 | c.324 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735860 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19064.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0039 | 1 | 218 | 0.0046 | -10 | c.588 others(27): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76738108 | GCTTCCCT others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG03516.hp1 |
a0009 | a0009c0011 | a0009c0011t0002a0009c0011t0013a0009c0011t0034 | a0009c0011t0002g0045 a0009c0011t0013g0031 a0009c0011t0034g0144 |
3 | 218 | 0.0138 | -10 | c.588 others(25): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50646527 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0166 |
2 | 175 | 0.0114 | -10 | c.270 others(27): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50791577 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0003a0008c0008t0007 | a0001c0001t0003g0060 a0008c0008t0007g0058 a0008c0008t0007g0059 |
3 | 175 | 0.0171 | -10 | c.117 others(29): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50795088 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | NA18959.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0091 | 1 | 175 | 0.0057 | -10 | c.117 others(29): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50808983 | GCTCCACC others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 175 | 0.0057 | -10 | c.117 others(27): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50816758 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01934.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0008a0002c0002t0001a0003c0010t0002others(1): Show | a0001c0001t0008g0006 a0002c0002t0001g0121 a0002c0002t0001g0170 others(2): Show |
5 | 175 | 0.0286 | -10 | c.-27 others(21): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2565 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116899540 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03225.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0061a0001c0001t0064 | a0001c0001t0011g0023 a0001c0001t0061g0104 a0001c0001t0064g0024 |
3 | 292 | 0.0103 | -10 | c.167 others(29): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0224 a0001c0001t0008g0229 |
2 | 292 | 0.0069 | -10 | c.173 others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116985038 | TTCATGCA others(3): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0007 | 1 | 292 | 0.0034 | -10 | c.59- others(25): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SIAE_chr11_124628113_124678739 | 124628114 | TATACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp2 NA18955.hp2 NA18966.hp2 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0009t0005 | a0002c0002t0003g0035 a0002c0002t0003g0188 a0002c0002t0003g0191 others(3): Show |
6 | 290 | 0.0207 | -10 | c.*88 others(21): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 4998 | chr11 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150745240 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 2 | 346 | 0.0058 | -10 | c.418 others(27): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150755708 | GGTTACTC others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 346 | 0.0029 | -10 | c.417 others(27): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45804963 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01123.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0319 others(19): Show |
22 | 364 | 0.0604 | -10 | c.136 others(29): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0326 a0001c0001t0003g0022 a0001c0001t0003g0023 others(5): Show |
8 | 364 | 0.0220 | -10 | c.135 others(29): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45850919 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0012others(8): Show | a0001c0001t0009g0037 a0001c0001t0010g0104 a0001c0001t0012g0036 others(9): Show |
12 | 364 | 0.0330 | -10 | c.135 others(25): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113534233 | ACCATGAT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01069.hp1 others(40): Show |
a0001a0003a0014others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0001g0271 others(39): Show |
43 | 318 | 0.1352 | -10 | c.222 others(26): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113545114 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG02083.hp2 others(16): Show |
a0002a0008a0009others(1): Show | a0002c0003a0002c0021a0008c0020others(2): Show | a0002c0003t0001a0002c0021t0001a0008c0020t0001others(2): Show | a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0017 others(16): Show |
19 | 318 | 0.0598 | -10 | c.222 others(29): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113568601 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 318 | 0.0031 | -10 | c.515 others(25): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113580505 | TGGAGATT others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0285 others(8): Show |
11 | 318 | 0.0346 | -10 | c.562 others(23): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT2_chr11_117173743_117202442 | 117174164 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 430 | 0.0023 | -10 | c.-50 others(21): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 4578 | chr11 | TogoVar | |||||||
SIDT2_chr11_117173743_117202442 | 117195085 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 430 | 0.0023 | -10 | c.232 others(27): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402362 | CCCCGGCT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 242 | 0.0041 | -10 | c.*35 others(21): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3353 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402480 | CCCGACCC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 242 | 0.0041 | -10 | c.*34 others(21): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3235 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402504 | CCGGCTCC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 242 | 0.0041 | -10 | c.*33 others(21): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3211 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 415207 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03130.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0224 a0001c0001t0001g0236 others(5): Show |
8 | 242 | 0.0331 | -10 | c.-54 others(19): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 209 | chr11 | TogoVar | |||||||
SIGLEC10_chr19_51405020_51422642 | 51405400 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0003g0013 a0001c0001t0004g0018 others(37): Show |
94 | 420 | 0.2238 | -10 | c.*56 others(21): Show |
SIGLEC10 | ENSG00000142512.15 | transcript | ENST00000339313.10 | protein_coding | 4619 | chr19 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49947384 | GGCTGCAG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0116 | 1 | 452 | 0.0022 | -10 | c.*25 others(21): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 1600 | chr19 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51648108 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(191): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0002g0002 others(87): Show |
194 | 300 | 0.6467 | -10 | c.-13 others(21): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 1284 | chr19 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3682800 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0090 | 1 | 428 | 0.0023 | -10 | c.*57 others(21): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 4169 | chr20 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3694174 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01496.hp2 others(18): Show |
a0001a0005a0012others(2): Show | a0001c0002a0005c0006a0012c0045others(3): Show | a0001c0002t0004a0001c0002t0021a0001c0002t0026others(7): Show | a0001c0002t0004g0072 a0001c0002t0004g0300 a0001c0002t0004g0302 others(16): Show |
21 | 428 | 0.0491 | -10 | c.325 others(25): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 13/21 | chr20 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51616909 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG02976.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0012 | a0001c0001t0001a0002c0002t0001a0007c0012t0001 | a0001c0001t0001g0138 a0001c0001t0001g0141 a0002c0002t0001g0146 others(1): Show |
4 | 414 | 0.0097 | -10 | c.146 others(29): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 8/8 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51461094 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0003others(4): Show | a0001c0001t0003g0083 a0001c0001t0005g0020 a0001c0001t0005g0031 others(7): Show |
18 | 452 | 0.0398 | -10 | c.-27 others(21): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 2641 | chr19 | TogoVar | |||||||
SIGLEC9_chr19_51119906_51135310 | 51130393 | CACATCCC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0066 |
9 | 442 | 0.0204 | -10 | c.*31 others(19): Show |
SIGLEC9 | ENSG00000129450.9 | transcript | ENST00000250360.8 | protein_coding | 84 | chr19 | TogoVar | |||||||
SIGLEC9_chr19_51119906_51135310 | 51133150 | ACTTTAAC others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 442 | 0.0023 | -10 | c.*30 others(21): Show |
SIGLEC9 | ENSG00000129450.9 | transcript | ENST00000250360.8 | protein_coding | 2841 | chr19 | TogoVar | |||||||
SIGLEC9_chr19_51119906_51135310 | 51134147 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02451.hp1 HG03041.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0004 | a0002c0002t0001a0003c0003t0001a0003c0004t0001 | a0002c0002t0001g0010 a0003c0003t0001g0008 a0003c0004t0001g0040 |
6 | 442 | 0.0136 | -10 | c.*40 others(21): Show |
SIGLEC9 | ENSG00000129450.9 | transcript | ENST00000250360.8 | protein_coding | 3838 | chr19 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111692350 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0014a0001c0003t0003 | a0001c0001t0004g0158 a0001c0001t0014g0116 a0001c0001t0014g0117 others(1): Show |
4 | 198 | 0.0202 | -10 | c.478 others(27): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116844625 | ATATAATA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0187 | 1 | 366 | 0.0027 | -10 | c.*10 others(21): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 25/25 | 1761 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116855083 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18522.hp2 others(3): Show |
a0001a0017 | a0001c0001a0017c0022 | a0001c0001t0004a0001c0001t0011a0017c0022t0004 | a0001c0001t0004g0134 a0001c0001t0004g0143 a0001c0001t0011g0034 others(3): Show |
6 | 366 | 0.0164 | -10 | c.365 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116915124 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01123.hp1 others(15): Show |
a0001a0002a0003 | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0005a0001c0002t0015a0002c0004t0006others(2): Show | a0001c0002t0005g0012 a0001c0002t0005g0022 a0001c0002t0005g0023 others(15): Show |
18 | 366 | 0.0492 | -10 | c.616 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938204 | AGAGGGGA others(3): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0361 | 1 | 366 | 0.0027 | -10 | c.455 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938259 | AGAGAGGA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0259 a0001c0001t0002g0059 a0001c0001t0002g0104 others(55): Show |
58 | 366 | 0.1585 | -10 | c.455 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938346 | CGGGAGGG others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01099.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0026a0002c0004others(4): Show | a0001c0002t0003a0001c0026t0003a0002c0004t0006others(4): Show | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(37): Show |
40 | 366 | 0.1093 | -10 | c.455 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938460 | GGAGGAGA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01257.hp1 others(18): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0014 | a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0152 others(18): Show |
21 | 366 | 0.0574 | -10 | c.455 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar |