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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D4B_chr10_80532902_80651560 | 80549203 | T | TGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00735.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0302 others(18): Show |
21 | 322 | 0.0652 | 5 | c.184 others(24): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572987 | T | TATATA | intron_variant | MODIFIER | HG01261.hp1 HG01517.hp2 HG01975.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0136 a0001c0001t0002g0144 a0002c0002t0002g0118 others(1): Show |
4 | 322 | 0.0124 | 5 | c.495 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80592715 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0014t0001others(7): Show | a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0010g0121 others(47): Show |
50 | 322 | 0.1553 | 5 | c.643 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80597671 | T | TAAATA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02630.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0003a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0003g0080 a0002c0002t0001g0017 a0002c0002t0004g0004 others(12): Show |
16 | 322 | 0.0497 | 5 | c.644 others(22): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089517 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01081.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0001c0016others(2): Show | a0001c0001t0001a0001c0014t0001a0001c0016t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show |
22 | 432 | 0.0509 | 5 | c.-30 others(16): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3043 | chr15 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79659914 | G | GTTCAC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0065 a0001c0001t0002g0006 a0001c0001t0002g0007 others(96): Show |
104 | 348 | 0.2989 | 5 | c.46- others(22): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26280499 | G | GCCCTC | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0003g0005 |
7 | 422 | 0.0166 | 5 | c.49- others(18): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81265417 | T | TTCTCA | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 243 | 0.0041 | 5 | c.46- others(22): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81279298 | A | AAAGTG | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0023 a0001c0001t0001g0139 a0001c0001t0002g0021 others(5): Show |
8 | 243 | 0.0329 | 5 | c.312 others(20): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BP1_chr22_37634669_37661117 | 37638668 | C | CGCCTG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(118): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0004a0001c0006others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(14): Show | a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0184 others(68): Show |
121 | 412 | 0.2937 | 5 | c.-11 others(16): Show |
SH3BP1 | ENSG00000100092.24 | transcript | ENST00000649765.2 | protein_coding | 1000 | chr22 | TogoVar | |||||||
SH3BP1_chr22_37634669_37661117 | 37657364 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(56): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0010a0001c0013others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0010t0002others(5): Show | a0001c0002t0001g0188 a0001c0002t0002g0004 a0001c0002t0002g0005 others(32): Show |
59 | 412 | 0.1432 | 5 | c.*16 others(16): Show |
SH3BP1 | ENSG00000100092.24 | transcript | ENST00000649765.2 | protein_coding | 1248 | chr22 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2843114 | T | TCCACA | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02027.hp1 HG02027.hp2 others(16): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0029others(5): Show | a0001c0001t0002g0222 a0001c0001t0003g0259 a0001c0001t0003g0272 others(14): Show |
19 | 378 | 0.0503 | 5 | c.*92 others(16): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 2019 | chr4 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235038341 | A | ATATAT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(84): Show |
a0002a0009a0014others(1): Show | a0002c0001a0009c0015a0014c0017others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(9): Show | a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 others(84): Show |
87 | 348 | 0.2500 | 5 | c.119 others(22): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235042535 | T | TGCGGG | frameshift_variant | HIGH | NA18943.hp2 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0084 | 1 | 348 | 0.0029 | 5 | c.176 others(14): Show |
p.Val others(5): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 4/6 | 2132/5150 | 1772/2892 | 591/963 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SH3BP5L_chr1_248805446_248830915 | 248830837 | C | CGGGAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(211): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0010 others(101): Show |
214 | 412 | 0.5194 | 5 | c.-54 others(16): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 4923 | chr1 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15274255 | A | AAAAAG | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0006g0188 a0001c0001t0006g0342 a0001c0001t0006g0346 others(17): Show |
20 | 376 | 0.0532 | 5 | c.331 others(22): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15276019 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0021 a0001c0001t0003g0120 a0001c0002t0001g0186 others(3): Show |
6 | 376 | 0.0160 | 5 | c.331 others(22): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15306517 | C | CAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp1 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0171 a0001c0001t0001g0172 others(63): Show |
67 | 376 | 0.1782 | 5 | c.202 others(22): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15328419 | T | TAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0160 a0002c0003t0001g0162 a0002c0003t0001g0164 others(5): Show |
8 | 376 | 0.0213 | 5 | c.201 others(22): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151125467 | G | GAAACA | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0129 a0001c0001t0001g0153 others(5): Show |
8 | 282 | 0.0284 | 5 | c.302 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 19/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151135986 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00735.hp2 others(49): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0095 others(48): Show |
52 | 282 | 0.1844 | 5 | c.242 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 14/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151150184 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00738.hp2 others(19): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0189 others(19): Show |
22 | 282 | 0.0780 | 5 | c.175 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151150206 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0057 others(27): Show |
31 | 282 | 0.1099 | 5 | c.175 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151194016 | A | ATTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0010 | a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 others(5): Show |
8 | 282 | 0.0284 | 5 | c.153 others(22): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151245146 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0105 others(50): Show |
53 | 282 | 0.1879 | 5 | c.113 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151254522 | T | TCTTAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(55): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0099 others(55): Show |
58 | 282 | 0.2057 | 5 | c.113 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151279866 | G | GCAGGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(46): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0099 others(46): Show |
49 | 282 | 0.1738 | 5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151296044 | A | AAAAAG | intron_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0002g0036 others(4): Show |
7 | 282 | 0.0248 | 5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151304959 | T | TAAAAC | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(2): Show |
5 | 282 | 0.0177 | 5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151313087 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 others(58): Show |
62 | 282 | 0.2199 | 5 | c.112 others(24): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4364727 | T | TTTTTG | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001 | a0001c0001t0001g0322 a0001c0001t0016g0166 a0001c0002t0001g0013 others(4): Show |
8 | 358 | 0.0224 | 5 | c.332 others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4399319 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0319 a0001c0001t0002g0024 a0001c0001t0002g0025 others(5): Show |
8 | 358 | 0.0224 | 5 | c.45+ others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17614295 | G | GAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0055 others(39): Show |
42 | 260 | 0.1615 | 5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17619677 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 others(9): Show |
12 | 260 | 0.0462 | 5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622979 | T | TCCTTC | intron_variant | MODIFIER | HG02027.hp2 HG02056.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0086 others(4): Show |
7 | 260 | 0.0269 | 5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622986 | G | GTTTCC | intron_variant | MODIFIER | HG01515.hp1 HG02280.hp2 HG02735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0145 others(6): Show |
9 | 260 | 0.0346 | 5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17640173 | C | CAGTAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0032 others(43): Show |
46 | 260 | 0.1769 | 5 | c.45+ others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17668652 | A | ATTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(97): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(97): Show |
100 | 260 | 0.3846 | 5 | c.46- others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17740465 | A | AGTATT | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0001g0190 others(3): Show |
6 | 260 | 0.0231 | 5 | c.46- others(20): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17758561 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0164 a0001c0001t0001g0222 others(3): Show |
6 | 260 | 0.0231 | 5 | c.115 others(22): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17762122 | T | TAGCAA | intron_variant | MODIFIER | HG03017.hp1 HG03942.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 a0001c0001t0007g0143 a0001c0001t0007g0165 others(1): Show |
4 | 260 | 0.0154 | 5 | c.187 others(20): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83463755 | C | CTTTCT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0124 others(77): Show |
80 | 324 | 0.2469 | 5 | c.45+ others(22): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83536385 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(195): Show |
199 | 324 | 0.6142 | 5 | c.46- others(22): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86738638 | G | GGTTTT | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0172 |
6 | 318 | 0.0189 | 5 | c.761 others(22): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB2_chr9_129002036_129033331 | 129032396 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG02129.hp2 NA18962.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0002t0002g0091 others(2): Show |
5 | 436 | 0.0115 | 5 | c.-42 others(16): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 4066 | chr9 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 204 | 0.0049 | 5 | c.*48 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19559274 | C | CAAAAA | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 204 | 0.0049 | 5 | c.138 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19565051 | A | ATTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01975.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 others(3): Show |
6 | 204 | 0.0294 | 5 | c.138 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19611430 | T | TGCAAC | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 204 | 0.0049 | 5 | c.898 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19618385 | C | CAAAAA | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0054 | 1 | 204 | 0.0049 | 5 | c.898 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | TogoVar |