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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGK3_chr8_66707781_66867022 | 66857799 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0032 others(3): Show |
6 | 142 | 0.0423 | -10 | c.132 others(29): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0038 others(15): Show |
18 | 312 | 0.0577 | -10 | c.-23 others(31): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50417413 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00642.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0143 others(46): Show |
49 | 312 | 0.1571 | -10 | c.-23 others(31): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50429732 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG00741.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 others(47): Show |
50 | 312 | 0.1603 | -10 | c.-23 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50458339 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 a0001c0002t0001g0194 |
2 | 312 | 0.0064 | -10 | c.-31 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50527063 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0133 | 1 | 312 | 0.0032 | -10 | c.-58 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50532225 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01257.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0120 a0001c0001t0003g0215 a0001c0001t0003g0238 others(4): Show |
7 | 312 | 0.0224 | -10 | c.-58 others(31): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50587631 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 312 | 0.0032 | -10 | c.-58 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50588721 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 312 | 0.0032 | -10 | c.-58 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107886364 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0119 a0001c0001t0019g0038 |
2 | 270 | 0.0074 | -10 | c.-24 others(29): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200524454 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0078 | 1 | 384 | 0.0026 | -10 | c.-18 others(21): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 1752 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70833987 | AGAGTGAC others(3): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 a0001c0001t0021g0049 |
3 | 402 | 0.0075 | -10 | c.28- others(27): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70854231 | GTGGTGTG others(3): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 402 | 0.0025 | -10 | c.262 others(25): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63688315 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0256 a0001c0002t0005g0001 a0001c0002t0005g0028 others(2): Show |
6 | 288 | 0.0208 | -10 | c.775 others(27): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63688710 | ATTTCTTT others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02523.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001 a0001c0002t0005g0028 a0001c0002t0005g0029 |
4 | 288 | 0.0139 | -10 | c.775 others(27): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63718977 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 288 | 0.0035 | -10 | c.684 others(27): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63719006 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 288 | 0.0035 | -10 | c.684 others(27): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63719008 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0011 | 1 | 288 | 0.0035 | -10 | c.684 others(27): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63728103 | GCGCCCCG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0041 | 1 | 288 | 0.0035 | -10 | c.-16 others(19): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 39 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222434975 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18975.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0109 a0001c0001t0007g0170 |
2 | 272 | 0.0074 | -10 | c.219 others(29): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222467950 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG04204.hp1 HG06807.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0082 | a0001c0001t0001g0143 a0001c0001t0024g0124 a0001c0001t0082g0264 |
3 | 272 | 0.0110 | -10 | c.220 others(27): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222472909 | GAGGCTGA others(3): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 272 | 0.0037 | -10 | c.220 others(27): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24851449 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0045 | a0001c0007t0001g0323 a0001c0007t0001g0324 a0001c0007t0001g0338 others(1): Show |
4 | 338 | 0.0118 | -10 | c.455 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24858635 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01109.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0016 a0001c0001t0001g0252 a0001c0001t0001g0254 others(54): Show |
57 | 338 | 0.1686 | -10 | c.802 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860897 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0325 | 1 | 338 | 0.0030 | -10 | c.926 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860914 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG03225.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0009 | a0001c0001t0001g0300 a0003c0003t0001g0301 a0003c0003t0009g0123 others(1): Show |
4 | 338 | 0.0118 | -10 | c.926 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860918 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0187 | 1 | 338 | 0.0030 | -10 | c.926 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24884697 | CCAGGGCC others(3): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0158 | 1 | 338 | 0.0030 | -10 | c.164 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2352767 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(55): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(11): Show | a0001c0001t0001g0023 a0001c0001t0001g0061 a0001c0001t0001g0070 others(53): Show |
58 | 422 | 0.1374 | -10 | c.134 others(27): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2372318 | TGCTGCCC others(3): Show |
T | splice_region_variant others(1): Show |
LOW | HG03209.hp1 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0041 | a0001c0001t0001a0002c0041t0001 | a0001c0001t0001g0211 a0002c0041t0001g0312 |
2 | 422 | 0.0047 | -10 | c.164 others(24): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65704035 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 others(3): Show |
6 | 360 | 0.0167 | -10 | c.374 others(25): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65704047 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | NA18992.hp1 NA19070.hp2 NA19076.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 others(1): Show |
4 | 360 | 0.0111 | -10 | c.374 others(25): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102305252 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03453.hp1 HG03486.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 others(2): Show |
5 | 406 | 0.0123 | -10 | c.730 others(27): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG01884.hp2 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005a0002c0002t0013others(1): Show | a0002c0002t0004g0022 a0002c0002t0004g0098 a0002c0002t0004g0099 others(28): Show |
35 | 326 | 0.1074 | -10 | c.732 others(27): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111442510 | AGACCACC others(3): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 326 | 0.0031 | -10 | c.733 others(27): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350354 | ATATATAA others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show |
4 | 318 | 0.0126 | -10 | c.137 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350728 | ATATAATA others(3): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 318 | 0.0031 | -10 | c.137 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350812 | ATATAATA others(3): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | 318 | 0.0063 | -10 | c.137 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350840 | ATATAATA others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0070 others(19): Show |
22 | 318 | 0.0692 | -10 | c.137 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350868 | ATATAATA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 |
2 | 318 | 0.0063 | -10 | c.137 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124362929 | AAGGCTGT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02074.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0002g0057 |
3 | 318 | 0.0094 | -10 | c.138 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124366876 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0144 a0001c0001t0003g0120 |
2 | 318 | 0.0063 | -10 | c.201 others(27): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375142 | ACTCTCTC others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03453.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0085 |
3 | 318 | 0.0094 | -10 | c.*37 others(21): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1983 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375169 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 318 | 0.0031 | -10 | c.*37 others(21): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2010 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375171 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 318 | 0.0031 | -10 | c.*37 others(21): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2012 | chrX | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403503 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0103 | 1 | 424 | 0.0024 | -10 | c.135 others(25): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403505 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0104 | 1 | 424 | 0.0024 | -10 | c.135 others(25): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403507 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp1 NA18969.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0186 a0001c0001t0001g0193 |
4 | 424 | 0.0094 | -10 | c.135 others(25): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403509 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02129.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0197 a0001c0001t0001g0216 others(15): Show |
29 | 424 | 0.0684 | -10 | c.135 others(25): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403511 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0156 a0001c0001t0001g0162 others(11): Show |
23 | 424 | 0.0543 | -10 | c.135 others(25): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar |