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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3BGRL2_chr6_79626329_79708655 | 79660450 | T | TGCATATG others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01123.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0004g0024 others(8): Show |
14 | 346 | 0.0405 | 15 | c.46- others(32): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39479229 | G | GTGGTGGT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01361.hp2 HG02145.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0119 a0001c0001t0003g0025 a0001c0001t0003g0122 others(7): Show |
10 | 298 | 0.0336 | 15 | c.312 others(32): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 234951930 | G | GCCCCGCC others(8): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 | 1 | 346 | 0.0029 | 15 | c.-44 others(24): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 86 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235036737 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0344 | 1 | 342 | 0.0029 | 15 | c.118 others(32): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(91): Show |
a0002a0009 | a0002c0001a0002c0016a0009c0015 | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(8): Show | a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 others(91): Show |
94 | 158 | 0.5949 | 15 | c.118 others(32): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15320641 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 369 | 0.0027 | 15 | c.201 others(32): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151135986 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01978.hp2 HG02148.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0221 others(7): Show |
10 | 197 | 0.0508 | 15 | c.242 others(32): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 14/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151286982 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0002 | 1 | 164 | 0.0061 | 15 | c.112 others(34): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313355 | A | AAATAAAT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 374 | 0.0027 | 15 | c.769 others(32): 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(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0054 |
3 | 34 | 0.0882 | 15 | c.769 others(32): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622976 | G | GTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0002g0037 others(3): Show |
6 | 204 | 0.0294 | 15 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622986 | G | GTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01192.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0054 a0001c0001t0002g0004 a0001c0001t0002g0179 others(4): Show |
7 | 73 | 0.0959 | 15 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622987 | T | TTTCCTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0191 a0001c0001t0002g0021 others(6): Show |
9 | 252 | 0.0357 | 15 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18939.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0045 a0001c0001t0001g0139 a0001c0001t0002g0236 others(2): Show |
5 | 11 | 0.4545 | 15 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645182 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 256 | 0.0039 | 15 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17739220 | T | TGTCAACA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 258 | 0.0039 | 15 | c.46- others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17740465 | A | AGTATTGT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0254 a0001c0001t0003g0098 |
2 | 186 | 0.0108 | 15 | c.46- others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17743601 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 256 | 0.0039 | 15 | c.46- others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17751509 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0207 |
2 | 257 | 0.0078 | 15 | c.114 others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17758561 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18906.hp1 NA19002.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0002 | a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0208 others(2): Show |
5 | 23 | 0.2174 | 15 | c.115 others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83576921 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01952.hp1 HG01952.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0030 others(22): Show |
25 | 112 | 0.2232 | 15 | c.624 others(30): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724878 | A | AACTATAT others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0039 | 1 | 309 | 0.0032 | 15 | c.570 others(30): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724888 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0023 a0001c0001t0009g0074 a0001c0001t0017g0075 |
4 | 253 | 0.0158 | 15 | c.570 others(30): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19565051 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0197 a0001c0001t0001g0201 others(1): Show |
4 | 103 | 0.0388 | 15 | c.138 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19567539 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 200 | 0.0050 | 15 | c.138 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19567547 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 | 1 | 191 | 0.0052 | 15 | c.138 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19670839 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0049 a0001c0003t0001g0050 a0001c0003t0002g0041 others(2): Show |
5 | 128 | 0.0391 | 15 | c.726 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCTCTCCT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0190 a0001c0002t0008g0192 |
2 | 96 | 0.0208 | 15 | c.163 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774654 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0181 | 1 | 60 | 0.0167 | 15 | c.163 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19813160 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0188 a0001c0002t0008g0192 |
2 | 134 | 0.0149 | 15 | c.162 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19852636 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0193 a0001c0001t0001g0194 |
3 | 127 | 0.0236 | 15 | c.5-1 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878472 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 98 | 0.0102 | 15 | c.4+8 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103615483 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0057 | 1 | 8 | 0.1250 | 15 | c.920 others(32): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103701759 | C | CCATCCAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(235): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(133): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(234): Show |
238 | 248 | 0.9597 | 15 | c.399 others(32): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103702598 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0201 | 1 | 248 | 0.0040 | 15 | c.399 others(32): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329083 | A | ATATTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0015a0002c0004t0010 | a0001c0005t0015g0012 a0002c0004t0010g0056 |
2 | 66 | 0.0303 | 15 | c.*92 others(26): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4415 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329083 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0013 | 1 | 65 | 0.0154 | 15 | c.*92 others(26): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4415 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172434782 | G | GTTTTTGT others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02055.hp1 HG02109.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0060 a0001c0001t0002g0036 a0001c0001t0002g0039 others(22): Show |
25 | 239 | 0.1046 | 15 | c.76- others(32): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172434787 | T | TGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG02273.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0001g0125 others(13): Show |
16 | 278 | 0.0576 | 15 | c.76- others(32): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172434790 | T | TTTTTTGT others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0037 a0001c0001t0027g0038 |
2 | 277 | 0.0072 | 15 | c.76- others(32): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172454481 | A | AGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02922.hp2 others(1): Show |
a0002a0003 | a0002c0004a0003c0007 | a0002c0004t0030a0003c0007t0013 | a0002c0004t0030g0002 a0003c0007t0013g0003 a0003c0007t0013g0004 others(1): Show |
4 | 278 | 0.0144 | 15 | c.-14 others(24): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/13 | 130 | chr5 | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169145977 | A | AAAATATA others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120 | 1 | 214 | 0.0047 | 15 | c.766 others(32): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169145978 | T | TTCTATAT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0010 | a0001c0010t0026 | a0001c0010t0026g0100 | 1 | 209 | 0.0048 | 15 | c.766 others(32): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169146025 | T | TATATTCT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02056.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006a0001c0002t0012others(2): Show | a0001c0002t0004g0092 a0001c0002t0004g0159 a0001c0002t0006g0160 others(4): Show |
7 | 206 | 0.0340 | 15 | c.766 others(32): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109170244 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0171 | 1 | 123 | 0.0081 | 15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01099.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0016a0002c0001 | a0001c0002t0003a0001c0002t0009a0001c0002t0030others(5): Show | a0001c0002t0003g0058 a0001c0002t0003g0062 a0001c0002t0003g0277 others(8): Show |
11 | 98 | 0.1122 | 15 | c.576 others(32): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50695251 | G | GGGGGCGC others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0077 | a0001c0004t0077g0249 | 1 | 314 | 0.0032 | 15 | c.196 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50707876 | T | TTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02738.hp2 HG03669.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0050a0001c0002t0100a0002c0001t0018 | a0001c0002t0050g0028 a0001c0002t0100g0300 a0002c0001t0018g0146 |
3 | 38 | 0.0789 | 15 | c.107 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHBG_chr17_7625135_7638372 | 7629375 | C | CTAAAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 109 | 0.0092 | 15 | c.-79 others(24): Show |
SHBG | ENSG00000129214.15 | transcript | ENST00000380450.9 | protein_coding | 759 | chr17 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37920275 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0105 | 1 | 59 | 0.0169 | 15 | c.134 others(32): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar |