| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SESTD1_chr2_179096678_179269832 | 179185898 | GTATATTA others(33): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01358.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0003g0168a0001c0001t0003g0169a0001c0001t0003g0171others(23): Show | 26 | 274 | 0.0949 | -40 | c.56- others(55): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
| SFMBT1_chr3_52898572_53051073 | 52928617 | TACATATA others(33): Show |
T | intron_variant | MODIFIER | NA18999.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0253 | 2 | 328 | 0.0061 | -40 | c.898 others(55): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| SFTPB_chr2_85652314_85673199 | 85666391 | CTGTGTGT others(33): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 426 | 0.0024 | -40 | c.393 others(55): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
| SGCD_chr5_156322164_156772788 | 156444106 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0096 | 1 | 150 | 0.0067 | -40 | c.193 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(33): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 150 | 0.0067 | -40 | c.294 others(59): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SGCE_chr7_94579980_94661133 | 94604806 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA18949.hp1 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(2): Show | 5 | 390 | 0.0128 | -40 | c.663 others(57): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
| SGCZ_chr8_14079845_15243431 | 14885996 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03540.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0085a0002c0002t0009 | a0001c0001t0085g0059a0002c0002t0009g0001 | 2 | 102 | 0.0196 | -40 | c.40- others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| SGCZ_chr8_14079845_15243431 | 15028318 | GAAGTTGA others(33): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0083a0002c0002t0009 | a0001c0001t0083g0057a0002c0002t0009g0001 | 2 | 102 | 0.0196 | -40 | c.39+ others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| SGCZ_chr8_14079845_15243431 | 15028471 | GTCTAAGT others(33): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG02135.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(6): Show | a0001c0001t0001g0075a0001c0001t0005g0091a0001c0001t0022g0007others(6): Show | 9 | 102 | 0.0882 | -40 | c.39+ others(59): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| SGF29_chr16_28548920_28596790 | 28564538 | TGTATATA others(33): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0296 | 1 | 346 | 0.0029 | -40 | c.-16 others(59): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
| SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(66): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0080others(66): Show | 69 | 302 | 0.2285 | -40 | c.11- others(57): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0112a0001c0001t0001g0116a0001c0001t0001g0118others(59): Show | 62 | 312 | 0.1987 | -40 | c.-23 others(61): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
| SGSM1_chr22_24801211_24932578 | 24900369 | TTCTTTCT others(33): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02886.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0018a0003c0003others(5): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0139a0001c0018t0001g0310a0003c0003t0001g0306others(10): Show | 13 | 338 | 0.0385 | -40 | c.261 others(59): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SH3BP5L_chr1_248805446_248830915 | 248829757 | TCTCTCCT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0018a0001c0001t0007g0175a0001c0001t0020g0176 | 6 | 412 | 0.0146 | -40 | c.-43 others(51): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3843 | chr1 | TogoVar | ||||||
| SH3D19_chr4_151115281_151330605 | 151214983 | CTCCCAGA others(33): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 282 | 0.0036 | -40 | c.152 others(59): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | ||||||
| SH3KBP1_chrX_19528977_19892600 | 19554038 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(19): Show | 22 | 204 | 0.1078 | -40 | c.138 others(59): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
| SH3PXD2A_chr10_103589027_103860576 | 103607261 | ACCGCCCC others(33): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0039 | a0001c0009t0039g0113 | 1 | 250 | 0.0040 | -40 | c.130 others(59): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | ||||||
| SH3PXD2A_chr10_103589027_103860576 | 103701998 | CCATCCAT others(33): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0044a0001c0001t0067a0001c0001t0109others(2): Show | a0001c0001t0044g0240a0001c0001t0044g0244a0001c0001t0067g0076others(3): Show | 6 | 250 | 0.0240 | -40 | c.399 others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | ||||||
| SH3PXD2A_chr10_103589027_103860576 | 103795903 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 250 | 0.0040 | -40 | c.153 others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| SH3PXD2A_chr10_103589027_103860576 | 103810912 | ACACACAC others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0003g0119a0001c0001t0003g0140a0001c0001t0004g0053others(89): Show | 92 | 250 | 0.3680 | -40 | c.73- others(55): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
| SH3PXD2B_chr5_172328499_172459525 | 172348671 | CTATCTAT others(33): Show |
C | intron_variant | MODIFIER | HG03942.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0132 | 2 | 280 | 0.0071 | -40 | c.101 others(59): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
| SH3PXD2B_chr5_172328499_172459525 | 172439255 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0030a0001c0001t0075 | a0001c0001t0026g0040a0001c0001t0030g0006a0001c0001t0075g0210 | 3 | 280 | 0.0107 | -40 | c.75+ others(57): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
| SH3RF2_chr5_145931578_146068292 | 146064656 | GAGAGAAA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG01361.hp2 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0001a0002c0002t0001g0022a0002c0002t0001g0026others(9): Show | 12 | 272 | 0.0441 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1365 | chr5 | TogoVar | ||||||
| SH3RF2_chr5_145931578_146068292 | 146064691 | AAAGAAAG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113a0001c0001t0002g0130 | 2 | 272 | 0.0074 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1400 | chr5 | TogoVar | ||||||
| SH3RF2_chr5_145931578_146068292 | 146064695 | AAAGAAAG others(33): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 272 | 0.0037 | -40 | c.*19 others(51): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1404 | chr5 | TogoVar | ||||||
| SH3RF3_chr2_109124205_109509634 | 109170239 | TTTCTTTT others(33): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 172 | 0.0058 | -40 | c.573 others(59): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SH3RF3_chr2_109124205_109509634 | 109299388 | CATCAGGG others(33): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02165.hp1 HG03942.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0013others(2): Show | a0001c0001t0011a0001c0019t0004a0002c0013t0033others(3): Show | a0001c0001t0011g0119a0001c0019t0004g0059a0002c0013t0033g0168others(3): Show | 6 | 172 | 0.0349 | -40 | c.574 others(59): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(33): Show | a0001c0002t0001g0091a0001c0002t0001g0119a0001c0002t0001g0173others(46): Show | 50 | 316 | 0.1582 | -40 | c.107 others(59): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50710777 | GGCCTTTC others(33): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 316 | 0.0032 | -40 | c.107 others(57): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | ||||||
| SHCBP1L_chr1_182894865_182958166 | 182952179 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 302 | 0.0033 | -40 | c.405 others(55): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
| SHD_chr19_4274266_4295722 | 4286226 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0295 | 1 | 462 | 0.0022 | -40 | c.716 others(57): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48468965 | AGGACACA others(33): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0133 | 1 | 290 | 0.0035 | -40 | c.*10 others(49): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 6/6 | 102 | chr3 | TogoVar | |||||
| SHISA6_chr17_11236213_11569063 | 11526880 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0014a0001c0001t0021a0001c0002t0014others(2): Show | a0001c0001t0014g0013a0001c0001t0014g0147a0001c0001t0021g0132others(3): Show | 6 | 192 | 0.0313 | -40 | c.896 others(59): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 12943306 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0061 | a0001c0001t0024g0110a0001c0001t0061g0073 | 2 | 214 | 0.0094 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 12943310 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 214 | 0.0047 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 12943314 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0046 | 1 | 214 | 0.0047 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 12970389 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0097a0001c0002t0013 | a0001c0001t0006g0042a0001c0001t0097g0105a0001c0002t0013g0125 | 3 | 214 | 0.0140 | -40 | c.691 others(59): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13019862 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0185 | 1 | 214 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13019866 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0165 | 1 | 214 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13019870 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0059 | 1 | 214 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13019932 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 214 | 0.0047 | -40 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISAL1_chr22_44238665_44317951 | 44302613 | TAGCAGGG others(33): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(7): Show |
a0001 | a0001c0071a0001c0073a0001c0084others(7): Show | a0001c0071t0001a0001c0073t0001a0001c0084t0006others(7): Show | a0001c0071t0001g0152a0001c0073t0001g0281a0001c0084t0006g0078others(7): Show | 10 | 380 | 0.0263 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44302883 | GGTGAGGA others(33): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA20805.hp1 |
a0001 | a0001c0168a0001c0288 | a0001c0168t0015a0001c0288t0002 | a0001c0168t0015g0313a0001c0288t0002g0064 | 2 | 380 | 0.0053 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44302907 | GCCCTGGG others(33): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02717.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0005a0001c0086a0001c0096others(1): Show | a0001c0005t0063a0001c0086t0056a0001c0096t0003others(1): Show | a0001c0005t0063g0131a0001c0086t0056g0321a0001c0096t0003g0323others(1): Show | 4 | 380 | 0.0105 | -40 | c.-32 others(57): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 655596 | CTCTCTCT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0171 | a0001c0001t0171g0157 | 1 | 220 | 0.0046 | -40 | c.*10 others(53): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4013 | chrX | TogoVar | ||||||
| SHQ1_chr3_72744277_72853445 | 72755242 | TGATGGAT others(33): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 222 | 0.0045 | -40 | c.118 others(59): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | ||||||
| SHQ1_chr3_72744277_72853445 | 72852094 | CTCTCTCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0008 | 1 | 222 | 0.0045 | -40 | c.-37 others(51): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3650 | chr3 | TogoVar | ||||||
| SHROOM3_chr4_76430229_76788253 | 76608638 | TAGCATAG others(33): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0001t0002g0181a0002c0002t0001g0022a0002c0002t0001g0098others(15): Show | 18 | 218 | 0.0826 | -40 | c.323 others(59): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76608673 | TAGCACAG others(33): Show |
T | intron_variant | MODIFIER | HG03579.hp1 NA18906.hp1 |
a0001a0006 | a0001c0001a0006c0040 | a0001c0001t0002a0006c0040t0001 | a0001c0001t0002g0185a0006c0040t0001g0155 | 2 | 218 | 0.0092 | -40 | c.323 others(59): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM4_chrX_50581796_50819194 | 50795114 | GATATATA others(33): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(101): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0018a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(101): Show | 104 | 175 | 0.5943 | -40 | c.117 others(59): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar |