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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D4A_chr8_19308693_19401218 | 19373455 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0014 | a0002c0014t0005 | a0002c0014t0005g0219 | 1 | 354 | 0.0028 | 26 | c.918 others(39): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282328 | A | AGGGACTG others(19): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 26 | c.*12 others(37): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 807 | chr1 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2825477 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0088 | a0001c0003t0088g0135 | 1 | 378 | 0.0027 | 26 | c.428 others(41): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0156 | 1 | 376 | 0.0027 | 26 | c.496 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320605 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01981.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0279 a0001c0001t0001g0290 others(1): Show |
4 | 376 | 0.0106 | 26 | c.201 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0161 | 1 | 376 | 0.0027 | 26 | c.201 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36302436 | A | AAGCTGCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 26 | c.-39 others(37): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 3931 | chr1 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313967 | A | ATTTTTCT others(19): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 376 | 0.0027 | 26 | c.769 others(43): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042 a0001c0001t0001g0150 a0001c0001t0001g0156 others(6): Show |
11 | 376 | 0.0293 | 26 | c.769 others(43): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4364866 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 358 | 0.0028 | 26 | c.331 others(41): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GLB1_chr1_86699576_86753184 | 86724890 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 318 | 0.0031 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103 | 1 | 318 | 0.0031 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 318 | 0.0031 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0195 a0001c0001t0001g0198 |
3 | 204 | 0.0147 | 26 | c.*48 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCTCTCCC others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0039 | 1 | 204 | 0.0049 | 26 | c.163 others(45): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19873286 | A | ACGTATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 204 | 0.0049 | 26 | c.4+1 others(41): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 NA18975.hp2 NA19060.hp1 |
a0001a0004a0013 | a0001c0003a0004c0011a0013c0025 | a0001c0003t0034a0004c0011t0111a0013c0025t0034 | a0001c0003t0034g0052 a0004c0011t0111g0223 a0013c0025t0034g0034 |
3 | 250 | 0.0120 | 26 | c.*51 others(37): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 NA18979.hp1 |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0094a0004c0011t0108 | a0001c0003t0094g0182 a0004c0011t0108g0222 |
2 | 250 | 0.0080 | 26 | c.*51 others(37): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596685 | T | TCTCTCTC others(19): Show |
3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0074 | a0001c0002t0074g0084 | 1 | 250 | 0.0040 | 26 | c.*51 others(37): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5130 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103608150 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0123 | 1 | 250 | 0.0040 | 26 | c.130 others(45): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103702596 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01981.hp1 HG02165.hp1 others(8): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0021a0001c0001t0023a0001c0002t0077others(7): Show | a0001c0001t0021g0206 a0001c0001t0023g0099 a0001c0002t0077g0043 others(8): Show |
11 | 250 | 0.0440 | 26 | c.399 others(43): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103801542 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0042a0001c0002t0026 | a0001c0001t0014g0101 a0001c0001t0042g0097 a0001c0002t0026g0214 |
3 | 250 | 0.0120 | 26 | c.73- others(39): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368498 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0082 | a0001c0001t0078g0215 a0001c0001t0082g0211 |
2 | 280 | 0.0071 | 26 | c.427 others(43): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368596 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0006 | 1 | 280 | 0.0036 | 26 | c.427 others(43): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368686 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 280 | 0.0036 | 26 | c.427 others(43): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169178281 | T | TAAATAAG others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0163 others(35): Show |
39 | 216 | 0.1806 | 26 | c.394 others(45): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109249532 | T | TTTCTTTT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0110 a0001c0005t0017g0111 |
2 | 172 | 0.0116 | 26 | c.574 others(45): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109458572 | C | CAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0088 a0001c0001t0003g0134 a0001c0001t0009g0147 others(3): Show |
6 | 172 | 0.0349 | 26 | c.214 others(45): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8237419 | A | ATGCCTGC others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02056.hp2 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0033others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0033t0001others(10): Show | a0001c0001t0001g0232 a0001c0001t0001g0355 a0001c0002t0001g0217 others(13): Show |
16 | 374 | 0.0428 | 26 | c.355 others(41): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(8): Show |
a0001a0021a0028others(1): Show | a0001c0003a0001c0004a0001c0008others(3): Show | a0001c0003t0004a0001c0003t0006a0001c0003t0007others(6): Show | a0001c0003t0004g0097 a0001c0003t0004g0098 a0001c0003t0004g0191 others(8): Show |
11 | 316 | 0.0348 | 26 | c.576 others(43): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp1 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0001 | a0001c0003t0102a0001c0012t0024a0002c0001t0054 | a0001c0003t0102g0303 a0001c0012t0024g0122 a0001c0012t0024g0136 others(1): Show |
4 | 316 | 0.0127 | 26 | c.196 others(45): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHARPIN_chr8_144093637_144108773 | 144107619 | C | CCTGATGC others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(7): Show |
a0001a0007 | a0001c0002a0007c0017 | a0001c0002t0001a0007c0017t0001 | a0001c0002t0001g0004 a0001c0002t0001g0017 a0007c0017t0001g0069 |
10 | 334 | 0.0299 | 26 | c.-38 others(37): Show |
SHARPIN | ENSG00000179526.17 | transcript | ENST00000398712.7 | protein_coding | 3847 | chr8 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48897756 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 384 | 0.0026 | 26 | c.657 others(43): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0366 others(5): Show |
8 | 384 | 0.0208 | 26 | c.656 others(43): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAAGGAA others(19): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 302 | 0.0033 | 26 | c.118 others(45): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924976 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 302 | 0.0033 | 26 | c.118 others(45): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0007 | 1 | 192 | 0.0052 | 26 | c.799 others(45): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970393 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0185 | 1 | 214 | 0.0047 | 26 | c.691 others(45): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970395 | A | ATATATAC others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0184 | 1 | 214 | 0.0047 | 26 | c.691 others(45): 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(19): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03017.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0001t0094a0001c0003t0008 | a0001c0001t0025g0010 a0001c0001t0094g0101 a0001c0003t0008g0002 |
3 | 214 | 0.0140 | 26 | c.691 others(45): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13198202 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0049 | 1 | 214 | 0.0047 | 26 | c.692 others(43): 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(19): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090 | 1 | 380 | 0.0026 | 26 | c.*80 others(37): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 2018 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02080.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0001t0090a0001c0002t0009others(1): Show | a0001c0001t0033g0330 a0001c0001t0090g0104 a0001c0002t0009g0327 others(1): Show |
4 | 380 | 0.0105 | 26 | c.600 others(45): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44266528 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02738.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0162 a0001c0001t0004g0222 a0001c0001t0005g0293 |
3 | 380 | 0.0079 | 26 | c.600 others(45): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5764158 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 others(5): Show |
8 | 328 | 0.0244 | 26 | c.-4- others(41): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHOC1_chr9_111681171_111799937 | 111793622 | A | ATGGTTAG others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00642.hp2 others(29): Show |
a0003a0008a0016others(1): Show | a0003c0003a0008c0009a0016c0030others(1): Show | a0003c0003t0002a0008c0009t0001a0016c0030t0002others(1): Show | a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 others(28): Show |
32 | 296 | 0.1081 | 26 | c.-37 others(43): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 1/27 | chr9 | TogoVar | |||||||
SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0055 | a0001c0001t0040g0041 a0001c0001t0055g0035 |
2 | 380 | 0.0053 | 26 | c.-57 others(35): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72751508 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 222 | 0.0045 | 26 | c.118 others(43): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72765530 | C | CATACATA others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0208 | 1 | 222 | 0.0045 | 26 | c.118 others(47): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp1 NA20129.hp1 |
a0001a0002a0004 | a0001c0036a0002c0003a0004c0004 | a0001c0036t0002a0002c0003t0001a0004c0004t0001 | a0001c0036t0002g0032 a0002c0003t0001g0196 a0004c0004t0001g0131 |
3 | 218 | 0.0138 | 26 | c.324 others(45): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |