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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3BGRL_chrX_81197102_81303547 | 81300599 | TCCTGTG | T | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 243 | 0.0041 | -6 | c.*33 others(17): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 2053 | chrX | TogoVar | |||||||
SH3BGR_chr21_39446970_39520504 | 39510398 | TACACAC | T | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0099 a0001c0001t0004g0019 a0001c0001t0004g0232 |
3 | 302 | 0.0099 | -6 | c.436 others(23): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39510909 | CTATATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01123.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0057 a0002c0002t0001g0040 a0002c0002t0001g0156 others(12): Show |
15 | 302 | 0.0497 | -6 | c.436 others(21): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2802402 | ATATGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0015a0001c0003t0021others(2): Show | a0001c0003t0013g0124 a0001c0003t0015g0041 a0001c0003t0015g0109 others(3): Show |
6 | 378 | 0.0159 | -6 | c.-5+ others(21): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2802404 | ATGTGTG | A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0016a0001c0007t0015a0001c0007t0031 | a0001c0003t0016g0046 a0001c0007t0015g0042 a0001c0007t0031g0108 |
3 | 378 | 0.0079 | -6 | c.-5+ others(21): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2821950 | GTCCACC | G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0015a0001c0007t0027a0001c0007t0031 | a0001c0007t0015g0042 a0001c0007t0027g0047 a0001c0007t0027g0048 others(1): Show |
4 | 378 | 0.0106 | -6 | c.137 others(21): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 234951942 | GCGCCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(163): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(34): Show | a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0018 others(160): Show |
166 | 348 | 0.4770 | -6 | c.-43 others(15): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 74 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 234961874 | TGGTGGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(52): Show | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 others(250): Show |
257 | 348 | 0.7385 | -6 | c.-20 others(25): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 234964527 | GGTTGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(208): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(43): Show | a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0020 others(204): Show |
211 | 348 | 0.6063 | -6 | c.-20 others(27): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 234974379 | ATAAAAG | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(1): Show | a0001c0002t0001g0120 a0001c0002t0002g0122 a0002c0001t0001g0042 others(3): Show |
7 | 348 | 0.0201 | -6 | c.-20 others(27): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235038362 | ATATAAT | A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(9): Show |
a0002 | a0002c0001a0002c0016a0002c0019 | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(3): Show | a0002c0001t0001g0042 a0002c0001t0001g0093 a0002c0001t0001g0256 others(9): Show |
12 | 348 | 0.0345 | -6 | c.119 others(23): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235060136 | CATATAT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(144): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(20): Show | a0001c0002t0001g0018 a0001c0002t0001g0067 a0001c0002t0001g0072 others(144): Show |
147 | 348 | 0.4224 | -6 | c.*63 others(17): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 4423 | chr2 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(44): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0216 others(43): Show |
47 | 376 | 0.1250 | -6 | c.496 others(23): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15294290 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01433.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0199 a0001c0001t0002g0051 a0001c0001t0002g0053 others(10): Show |
13 | 376 | 0.0346 | -6 | c.330 others(23): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15294328 | TGTGCGC | T | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0214 a0001c0001t0004g0333 a0001c0001t0007g0073 |
3 | 376 | 0.0080 | -6 | c.330 others(23): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15318557 | ATGTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0171 others(94): Show |
99 | 376 | 0.2633 | -6 | c.201 others(25): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151122511 | TCACACA | T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG03041.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001a0007c0008t0006 | a0001c0001t0001g0121 a0007c0008t0001g0132 a0007c0008t0001g0242 others(3): Show |
6 | 282 | 0.0213 | -6 | c.302 others(23): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 19/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151138684 | TCTCACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0014others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0003t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0060 others(24): Show |
27 | 282 | 0.0957 | -6 | c.229 others(23): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 13/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151138686 | TCACACA | T | intron_variant | MODIFIER | HG00733.hp2 HG02280.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0135 others(3): Show |
6 | 282 | 0.0213 | -6 | c.229 others(23): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 13/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151185040 | GTTTTTT | G | intron_variant | MODIFIER | HG01169.hp2 HG02109.hp2 HG03453.hp2 others(4): Show |
a0001a0003a0007 | a0001c0001a0001c0020a0003c0004others(1): Show | a0001c0001t0001a0001c0020t0005a0003c0004t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0193 others(4): Show |
7 | 282 | 0.0248 | -6 | c.193 others(23): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 3/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151216877 | CTGTGTG | C | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp2 HG01943.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0193 a0001c0005t0001g0181 a0001c0005t0001g0190 others(3): Show |
6 | 282 | 0.0213 | -6 | c.152 others(23): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151256013 | GGGGAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(57): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0099 others(57): Show |
60 | 282 | 0.2128 | -6 | c.113 others(25): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151262676 | TTCTCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG02148.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0206 a0001c0001t0001g0253 a0001c0001t0004g0199 others(2): Show |
5 | 282 | 0.0177 | -6 | c.113 others(25): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151330325 | TTAAAAA | T | upstream_gene_variant | MODIFIER | HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 a0001c0001t0002g0147 |
2 | 282 | 0.0071 | -6 | c.-49 others(17): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 4721 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36318898 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(67): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0039 others(51): Show |
70 | 376 | 0.1862 | -6 | c.770 others(21): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4364898 | GTATATA | G | intron_variant | MODIFIER | HG01243.hp2 HG03098.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0021 | a0001c0002t0001g0147 a0001c0002t0001g0278 a0001c0002t0021g0131 |
3 | 358 | 0.0084 | -6 | c.331 others(21): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4387855 | GTTTGTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0297 |
3 | 358 | 0.0084 | -6 | c.45+ others(23): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4392518 | TCACACA | T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0079 a0001c0001t0003g0302 a0001c0001t0003g0303 others(10): Show |
18 | 358 | 0.0503 | -6 | c.45+ others(21): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17618793 | TTGTGTG | T | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0021g0258 |
3 | 260 | 0.0115 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17623039 | TCCTTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(68): Show |
71 | 260 | 0.2731 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17628411 | GGTGTGT | G | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0075 others(6): Show |
9 | 260 | 0.0346 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17636288 | TAGGTAA | T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0002g0003 others(4): Show |
7 | 260 | 0.0269 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(65): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0034 others(64): Show |
68 | 260 | 0.2615 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17647429 | GTCTCTC | G | intron_variant | MODIFIER | HG03654.hp2 HG04184.hp1 NA18953.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0135 others(6): Show |
9 | 260 | 0.0346 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17661814 | AAACTTT | A | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0223 others(6): Show |
9 | 260 | 0.0346 | -6 | c.45+ others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17686917 | TACCCTA | T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0249 |
3 | 260 | 0.0115 | -6 | c.46- others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17751479 | CGTGTGT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0254 a0001c0001t0002g0144 a0001c0001t0003g0002 others(8): Show |
11 | 260 | 0.0423 | -6 | c.114 others(23): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83448442 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 others(40): Show |
43 | 324 | 0.1327 | -6 | c.45+ others(19): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83464988 | TATAATA | T | intron_variant | MODIFIER | HG01884.hp2 HG02132.hp2 HG02630.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0128 others(12): Show |
15 | 324 | 0.0463 | -6 | c.45+ others(23): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83487201 | CTGTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00639.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 others(43): Show |
46 | 324 | 0.1420 | -6 | c.45+ others(23): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83541312 | ATTTTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0124 others(10): Show |
13 | 324 | 0.0401 | -6 | c.46- others(23): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83562030 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01257.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 others(21): Show |
24 | 324 | 0.0741 | -6 | c.114 others(23): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83566365 | AGTGTGT | A | intron_variant | MODIFIER | HG02818.hp2 HG02897.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0001g0217 a0001c0001t0001g0221 others(2): Show |
5 | 324 | 0.0154 | -6 | c.187 others(23): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83607840 | AAATAAT | A | intron_variant | MODIFIER | HG02818.hp2 HG02897.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0217 others(1): Show |
4 | 324 | 0.0124 | -6 | c.839 others(25): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86750706 | CATAAAG | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0200 others(1): Show |
4 | 318 | 0.0126 | -6 | c.*74 others(17): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 2523 | chr1 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19554055 | ATTATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(22): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0001g0052 a0001c0001t0001g0168 a0001c0001t0001g0169 others(22): Show |
25 | 204 | 0.1226 | -6 | c.138 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19567518 | CAAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 others(2): Show |
5 | 204 | 0.0245 | -6 | c.138 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19583125 | CATTATT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0087 others(16): Show |
19 | 204 | 0.0931 | -6 | c.129 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19621238 | CTAATTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01069.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(1): Show |
4 | 204 | 0.0196 | -6 | c.897 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19634031 | GGTGTGT | G | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG01943.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0056 others(25): Show |
28 | 204 | 0.1373 | -6 | c.803 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | TogoVar |