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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01891.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0295 a0001c0001t0003g0206 a0001c0001t0003g0225 others(2): Show |
5 | 15 | 0.3333 | -18 | c.-23 others(39): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50532225 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 59 | 0.0169 | -18 | c.-58 others(39): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50589167 | TATGTACA others(11): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 310 | 0.0032 | -18 | c.-58 others(35): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63718998 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0063 | 1 | 279 | 0.0036 | -18 | c.684 others(35): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63719000 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0007 a0001c0002t0004g0060 |
2 | 271 | 0.0074 | -18 | c.684 others(35): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63719004 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0018 a0001c0002t0009g0019 |
2 | 281 | 0.0071 | -18 | c.684 others(35): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222467950 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG02809.hp2 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0232 a0001c0001t0001g0257 a0001c0001t0003g0242 others(2): Show |
5 | 51 | 0.0980 | -18 | c.220 others(35): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24833724 | GGGGGAGG others(11): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 336 | 0.0030 | -18 | c.64- others(35): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | chr22 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2378921 | CCAGCCTC others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp1 HG01928.hp1 others(57): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0022a0001c0003t0002others(6): Show | a0001c0001t0002g0023 a0001c0001t0002g0153 a0001c0001t0002g0154 others(52): Show |
60 | 418 | 0.1435 | -18 | c.290 others(34): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM3_chr22_40365594_40415289 | 40376178 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 13 | 0.0769 | -18 | c.-11 others(37): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403701 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0116 a0001c0001t0003g0006 a0001c0001t0003g0009 others(47): Show |
72 | 129 | 0.5581 | -18 | c.135 others(33): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127757630 | GATGATGA others(11): Show |
G | intron_variant | MODIFIER | NA18992.hp2 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0232 | 1 | 307 | 0.0033 | -18 | c.555 others(35): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80572972 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0084 | 1 | 279 | 0.0036 | -18 | c.495 others(35): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572974 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 306 | 0.0033 | -18 | c.495 others(35): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80587133 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01257.hp1 others(32): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0010others(7): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0022others(18): Show | a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 others(31): Show |
35 | 320 | 0.1094 | -18 | c.496 others(35): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D5_chr1_20714731_20737703 | 20717823 | AGGGGCGG others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0128 a0001c0001t0011g0125 a0001c0001t0011g0127 |
3 | 408 | 0.0074 | -18 | c.*39 others(29): Show |
SH2D5 | ENSG00000189410.12 | transcript | ENST00000444387.7 | protein_coding | 1907 | chr1 | TogoVar | |||||||
SH3BGRL3_chr1_26275086_26286522 | 26282328 | AGGGACTG others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 293 | 0.0034 | -18 | c.*12 others(29): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 807 | chr1 | TogoVar | |||||||
SH3BGRL3_chr1_26275086_26286522 | 26282344 | ACCGGGAC others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0005 |
31 | 419 | 0.0740 | -18 | c.*12 others(29): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 823 | chr1 | TogoVar | |||||||
SH3BGR_chr21_39446970_39520504 | 39492487 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0224 | 1 | 300 | 0.0033 | -18 | c.313 others(35): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2802404 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 |
a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0054 a0001c0007t0027g0055 |
2 | 133 | 0.0150 | -18 | c.-5+ others(33): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151138684 | TCTCACAC others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02723.hp2 others(6): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0016t0013others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 others(6): Show |
9 | 95 | 0.0947 | -18 | c.229 others(35): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 13/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151216877 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp2 others(46): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0020others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0001t0001g0227 others(46): Show |
49 | 97 | 0.5052 | -18 | c.152 others(35): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151263790 | TTTGTTGT others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp1 others(58): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(9): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 others(58): Show |
61 | 169 | 0.3609 | -18 | c.113 others(37): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36318898 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show |
6 | 18 | 0.3333 | -18 | c.770 others(33): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4392518 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(91): Show |
101 | 152 | 0.6645 | -18 | c.45+ others(33): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
SH3GL3_chr15_83442341_83623743 | 83541312 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0036 others(17): Show |
20 | 56 | 0.3571 | -18 | c.46- others(35): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83562030 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0026 others(17): Show |
20 | 70 | 0.2857 | -18 | c.114 others(35): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83566365 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 166 | 0.0060 | -18 | c.187 others(35): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83621224 | CTTAGCTA others(11): Show |
C | downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 322 | 0.0031 | -18 | c.*29 others(29): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 2482 | chr15 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19583125 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0042 others(1): Show |
4 | 16 | 0.2500 | -18 | c.129 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19634031 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(1): Show |
4 | 28 | 0.1429 | -18 | c.803 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19643304 | TTTATTTT others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0195 others(7): Show |
10 | 202 | 0.0495 | -18 | c.802 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19653763 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0023 others(25): Show |
28 | 49 | 0.5714 | -18 | c.727 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19668935 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(35): Show |
38 | 70 | 0.5429 | -18 | c.726 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19703696 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002 | a0001c0002t0001g0180 a0001c0002t0002g0179 a0001c0002t0002g0204 others(1): Show |
4 | 31 | 0.1290 | -18 | c.390 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760022 | TCCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 others(1): Show |
4 | 197 | 0.0203 | -18 | c.163 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19873273 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 a0001c0001t0003g0057 |
2 | 198 | 0.0101 | -18 | c.4+1 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 19 | 0.0526 | -18 | c.-30 others(27): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103769134 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG00741.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(25): Show | a0001c0001t0003g0138 a0001c0001t0004g0052 a0001c0001t0014g0101 others(28): Show |
31 | 64 | 0.4844 | -18 | c.154 others(35): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439263 | ACAAAAAC others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02897.hp2 HG03453.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0014 | a0001c0001t0002g0036 a0001c0001t0002g0039 a0004c0006t0014g0018 others(1): Show |
4 | 271 | 0.0148 | -18 | c.75+ others(35): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169187516 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA18953.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 a0001c0001t0002g0078 |
2 | 5 | 0.4000 | -18 | c.394 others(37): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169255622 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 21 | 0.0476 | -18 | c.393 others(37): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146022874 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0239 | 1 | 11 | 0.0909 | -18 | c.105 others(37): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146033451 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03834.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 a0001c0001t0002g0178 |
2 | 49 | 0.0408 | -18 | c.106 others(39): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064658 | GAGAAAGA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 247 | 0.0040 | -18 | c.*19 others(29): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1367 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109238449 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0042a0001c0004t0043 | a0001c0004t0010g0003 a0001c0004t0010g0005 a0001c0004t0010g0006 others(2): Show |
5 | 11 | 0.4545 | -18 | c.573 others(39): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109249501 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0114 |
3 | 171 | 0.0175 | -18 | c.574 others(37): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109370190 | GGTCTCTG others(11): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0018 | a0001c0018t0040 | a0001c0018t0040g0065 | 1 | 89 | 0.0112 | -18 | c.850 others(35): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109495477 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0003a0001c0001t0007a0001c0001t0037others(2): Show | a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0007g0140 others(3): Show |
6 | 42 | 0.1429 | -18 | c.248 others(37): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8237033 | GGTGGGCT others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02258.hp1 others(5): Show |
a0007a0008 | a0007c0023a0007c0029a0008c0026others(1): Show | a0007c0023t0001a0007c0029t0001a0008c0026t0001others(1): Show | a0007c0023t0001g0020 a0007c0023t0001g0134 a0007c0023t0001g0135 others(5): Show |
8 | 372 | 0.0215 | -18 | c.355 others(35): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |