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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3KBP1_chrX_19528977_19892600 | 19653763 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp1 NA18948.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0101 others(2): Show |
5 | 204 | 0.0245 | -6 | c.727 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19668935 | AATATAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show |
9 | 204 | 0.0441 | -6 | c.726 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19690038 | TTCTCTC | T | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0009 | 1 | 204 | 0.0049 | -6 | c.520 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19691325 | GCTCTCT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0044 others(14): Show |
17 | 204 | 0.0833 | -6 | c.520 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19691352 | CTCTCTA | C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 204 | 0.0049 | -6 | c.520 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19692624 | CGTGTGT | C | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03195.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0109 others(7): Show |
10 | 204 | 0.0490 | -6 | c.520 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19703696 | CTGTGTG | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(18): Show |
21 | 204 | 0.1029 | -6 | c.390 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19719849 | CTAATAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0041 a0001c0002t0001g0179 a0001c0002t0002g0178 others(7): Show |
10 | 204 | 0.0490 | -6 | c.287 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19722562 | GCGCACT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0018 a0001c0001t0001g0194 a0001c0001t0001g0195 others(6): Show |
9 | 204 | 0.0441 | -6 | c.287 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19722569 | GGTGTGT | G | intron_variant | MODIFIER | HG01928.hp1 HG03516.hp1 HG03579.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0001g0110 others(4): Show |
7 | 204 | 0.0343 | -6 | c.287 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19732596 | TACACAC | T | intron_variant | MODIFIER | HG02738.hp1 HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0013 | a0001c0001t0001g0079 a0001c0002t0002g0189 a0001c0003t0013g0068 |
3 | 204 | 0.0147 | -6 | c.286 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19738694 | CAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
2 | 204 | 0.0098 | -6 | c.286 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760022 | TCCTCTC | T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 204 | 0.0049 | -6 | c.163 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19766483 | CTTTTTT | C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 204 | 0.0049 | -6 | c.163 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19773494 | AACACAC | A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(3): Show |
6 | 204 | 0.0294 | -6 | c.163 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774652 | AAAAAAG | A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 204 | 0.0049 | -6 | c.163 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19788280 | AAAAAAC | A | intron_variant | MODIFIER | HG03239.hp2 NA18957.hp2 NA18979.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0008t0001 | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 others(2): Show |
5 | 204 | 0.0245 | -6 | c.163 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19794230 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG03579.hp1 |
a0001 | a0001c0006a0001c0009 | a0001c0006t0001a0001c0009t0002 | a0001c0006t0001g0054 a0001c0009t0002g0009 |
2 | 204 | 0.0098 | -6 | c.162 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19813160 | AAAGAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(32): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(32): Show |
35 | 204 | 0.1716 | -6 | c.162 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19838059 | AAACAAC | A | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0099 others(1): Show |
4 | 204 | 0.0196 | -6 | c.5-1 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19855732 | CTGAGTA | C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 204 | 0.0049 | -6 | c.5-1 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19856951 | CTTTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0191 others(1): Show |
4 | 204 | 0.0196 | -6 | c.5-2 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19872268 | AAAAAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01515.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 others(1): Show |
4 | 204 | 0.0196 | -6 | c.4+1 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19872833 | TCACACA | T | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0013a0001c0006t0001 | a0001c0001t0001g0053 a0001c0003t0013g0068 a0001c0006t0001g0054 |
3 | 204 | 0.0147 | -6 | c.4+1 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878472 | TTGTGTG | T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | 204 | 0.0245 | -6 | c.4+8 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878503 | TGTGAGA | T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 204 | 0.0049 | -6 | c.4+8 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | TGAGAGA | T | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(23): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(23): Show |
26 | 204 | 0.1275 | -6 | c.4+8 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02074.hp1 HG02735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0070 others(4): Show |
7 | 204 | 0.0343 | -6 | c.-29 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103600827 | GAAACAA | G | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0039a0001c0009t0088a0001c0009t0089others(1): Show | a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0088g0091 others(2): Show |
5 | 250 | 0.0200 | -6 | c.*98 others(15): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 983 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103606177 | TATCATC | T | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01256.hp1 others(19): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0014a0001c0001t0024a0001c0001t0029others(13): Show | a0001c0001t0014g0156 a0001c0001t0024g0172 a0001c0001t0024g0181 others(19): Show |
22 | 250 | 0.0880 | -6 | c.130 others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103633727 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0044a0001c0001t0045others(5): Show | a0001c0001t0024g0172 a0001c0001t0024g0181 a0001c0001t0024g0227 others(8): Show |
11 | 250 | 0.0440 | -6 | c.605 others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103738553 | GAGATAC | G | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp1 HG02895.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0024a0001c0001t0045a0001c0001t0091others(6): Show | a0001c0001t0024g0227 a0001c0001t0045g0094 a0001c0001t0045g0098 others(7): Show |
10 | 250 | 0.0400 | -6 | c.230 others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 3/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103769134 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(43): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0017others(38): Show | a0001c0001t0003g0102 a0001c0001t0006g0089 a0001c0001t0017g0004 others(43): Show |
46 | 250 | 0.1840 | -6 | c.154 others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103771738 | AACACAC | A | intron_variant | MODIFIER | HG02165.hp2 HG03017.hp1 NA20129.hp2 |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0107a0001c0003t0015a0003c0007t0001 | a0001c0001t0107g0160 a0001c0003t0015g0137 a0003c0007t0001g0147 |
3 | 250 | 0.0120 | -6 | c.154 others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103809653 | TTCCCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(81): Show | a0001c0001t0003g0119 a0001c0001t0003g0140 a0001c0001t0004g0021 others(114): Show |
117 | 250 | 0.4680 | -6 | c.73- others(21): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103848208 | TCTCCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(130): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(217): Show |
221 | 250 | 0.8840 | -6 | c.72+ others(21): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103848948 | CTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG02895.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0024a0001c0001t0045a0001c0001t0093others(4): Show | a0001c0001t0024g0172 a0001c0001t0045g0098 a0001c0001t0093g0106 others(4): Show |
7 | 250 | 0.0280 | -6 | c.72+ others(21): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172339475 | GCCGCTC | G | conservative_inframe_deletion | MODERATE | HG02895.hp1 HG02897.hp2 HG03453.hp2 |
a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030 |
3 | 280 | 0.0107 | -6 | c.162 others(15): Show |
p.Glu others(13): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 13/13 | 1802/7779 | 1624/2736 | 542/911 | chr5 | TogoVar | |||
SH3PXD2B_chr5_172328499_172459525 | 172368535 | TATATAA | T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0021a0001c0003t0005a0001c0003t0031others(3): Show | a0001c0001t0021g0191 a0001c0001t0021g0192 a0001c0003t0005g0017 others(6): Show |
9 | 280 | 0.0321 | -6 | c.427 others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368659 | ATATTAT | A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp2 |
a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030 |
3 | 280 | 0.0107 | -6 | c.427 others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368743 | TAATATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01943.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 others(18): Show |
21 | 280 | 0.0750 | -6 | c.427 others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172390815 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(65): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0002g0124 others(65): Show |
68 | 280 | 0.2429 | -6 | c.309 others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439669 | TGCGTGC | T | intron_variant | MODIFIER | HG01943.hp2 HG02109.hp1 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0024others(9): Show | a0001c0001t0001g0060 a0001c0001t0010g0022 a0001c0001t0024g0037 others(11): Show |
14 | 280 | 0.0500 | -6 | c.75+ others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439692 | GCACACA | G | intron_variant | MODIFIER | HG01123.hp1 HG02809.hp1 HG03239.hp1 |
a0001 | a0001c0002a0001c0020 | a0001c0002t0025a0001c0002t0044a0001c0020t0016 | a0001c0002t0025g0079 a0001c0002t0044g0187 a0001c0020t0016g0264 |
3 | 280 | 0.0107 | -6 | c.75+ others(23): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169091618 | GTCTGCC | G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01123.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0027others(4): Show | a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 others(22): Show |
25 | 216 | 0.1157 | -6 | c.*48 others(17): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2640 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169176926 | CTGTTGT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00733.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0096 a0001c0002t0001g0088 a0001c0002t0001g0089 others(20): Show |
23 | 216 | 0.1065 | -6 | c.394 others(25): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169187516 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0011a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0011g0059 a0001c0001t0011g0060 a0001c0002t0001g0089 others(7): Show |
10 | 216 | 0.0463 | -6 | c.394 others(25): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169273808 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0061 a0001c0001t0003g0062 a0001c0001t0011g0058 others(5): Show |
8 | 216 | 0.0370 | -6 | c.-30 others(17): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2853 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 145959615 | ATGTGTG | A | intron_variant | MODIFIER | HG00673.hp1 HG02615.hp1 HG02630.hp2 others(5): Show |
a0001a0003a0019 | a0001c0005a0003c0003a0019c0026 | a0001c0005t0001a0003c0003t0001a0019c0026t0001 | a0001c0005t0001g0042 a0001c0005t0001g0209 a0001c0005t0001g0210 others(5): Show |
8 | 272 | 0.0294 | -6 | c.378 others(25): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 145971871 | AATGATG | A | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02486.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0002a0001c0005t0001a0001c0010t0001others(5): Show | a0001c0001t0002g0110 a0001c0005t0001g0042 a0001c0005t0001g0209 others(15): Show |
18 | 272 | 0.0662 | -6 | c.379 others(25): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |