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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAGAAGGG others(4): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0250 | 1 | 302 | 0.0033 | 11 | c.75- others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66631100 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02818.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0053 | a0002c0002t0003g0244 a0002c0003t0053g0144 |
2 | 302 | 0.0066 | 11 | c.75- others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66659950 | A | AAGAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01192.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0012a0001c0004t0001 | a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0012g0102 others(2): Show |
5 | 302 | 0.0166 | 11 | c.460 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66659950 | A | AAGAAAAG others(4): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0295 | 1 | 302 | 0.0033 | 11 | c.460 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660043 | G | GAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00639.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0100 others(19): Show |
22 | 302 | 0.0729 | 11 | c.460 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660063 | A | AAGAAAGG others(4): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 302 | 0.0033 | 11 | c.460 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | chr1 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66675537 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0212 | 1 | 302 | 0.0033 | 11 | c.647 others(28): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66683700 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03490.hp1 NA18994.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0010a0001c0001t0017a0002c0002t0001others(3): Show | a0001c0001t0010g0023 a0001c0001t0017g0033 a0002c0002t0001g0275 others(3): Show |
6 | 302 | 0.0199 | 11 | c.131 others(30): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66695255 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(113): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0132 others(113): Show |
116 | 302 | 0.3841 | 11 | c.157 others(28): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66742460 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0117 | 1 | 302 | 0.0033 | 11 | c.246 others(28): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134189205 | G | GGGTGTGT others(4): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 250 | 0.0040 | 11 | c.362 others(30): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134191835 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 others(74): Show |
77 | 250 | 0.3080 | 11 | c.361 others(30): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206383 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 250 | 0.0040 | 11 | c.361 others(26): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206383 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19056.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0104 a0002c0004t0001g0134 |
2 | 250 | 0.0080 | 11 | c.361 others(26): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206383 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp2 HG02015.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0003 | a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0085 others(2): Show |
5 | 250 | 0.0200 | 11 | c.361 others(26): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134220058 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0083 others(4): Show |
7 | 250 | 0.0280 | 11 | c.286 others(30): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134232413 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01175.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0085 others(8): Show |
11 | 250 | 0.0440 | 11 | c.286 others(30): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134235541 | T | TTTATTTA others(4): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0009 | 1 | 250 | 0.0040 | 11 | c.285 others(30): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134273592 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02896.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0240 a0001c0001t0002g0133 others(1): Show |
4 | 250 | 0.0160 | 11 | c.70- others(28): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK2_chr20_43554027_43590627 | 43563135 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 416 | 0.0024 | 11 | c.-23 others(28): Show |
SGK2 | ENSG00000101049.18 | transcript | ENST00000373100.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50449817 | C | CCATTAGA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 others(62): Show |
65 | 312 | 0.2083 | 11 | c.-31 others(32): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50626638 | A | ACCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 312 | 0.0032 | 11 | c.-36 others(22): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2683 | chr10 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107902289 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0031 | a0001c0005t0031g0012 | 1 | 270 | 0.0037 | 11 | c.574 others(26): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGO1_chr3_20164484_20191206 | 20177332 | A | ACATAAGT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(174): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0037 others(78): Show |
177 | 430 | 0.4116 | 11 | c.417 others(26): Show |
SGO1 | ENSG00000129810.15 | transcript | ENST00000412997.6 | protein_coding | 4/7 | chr3 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200570510 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 384 | 0.0026 | 11 | c.704 others(26): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0093 | 1 | 384 | 0.0026 | 11 | c.*52 others(22): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70835735 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03654.hp1 |
a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0055 a0001c0006t0019g0056 |
2 | 402 | 0.0050 | 11 | c.28- others(26): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 272 | 0.0037 | 11 | c.-23 others(22): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222473924 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0101 others(89): Show |
92 | 272 | 0.3382 | 11 | c.220 others(26): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(4): Show |
intron_variant | MODIFIER | NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0092 a0001c0001t0002g0257 |
2 | 338 | 0.0059 | 11 | c.63+ others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845945 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008a0003c0033 | a0001c0001t0003a0003c0008t0001a0003c0033t0031 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0003c0008t0001g0004 others(1): Show |
4 | 338 | 0.0118 | 11 | c.139 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24858635 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0015 | a0001c0007t0015g0074 | 1 | 338 | 0.0030 | 11 | c.802 others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860914 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0146 | 1 | 338 | 0.0030 | 11 | c.926 others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24860916 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03579.hp2 NA18953.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0036a0002c0002t0014a0003c0003t0001 | a0001c0001t0036g0334 a0002c0002t0014g0186 a0003c0003t0001g0306 |
3 | 338 | 0.0089 | 11 | c.926 others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24860918 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 338 | 0.0030 | 11 | c.926 others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2777092 | T | TCTCTACT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0012a0001c0003t0013 | a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0342 others(4): Show |
7 | 396 | 0.0177 | 11 | c.-24 others(28): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2786765 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0005t0002a0001c0007t0003others(3): Show | a0001c0001t0001g0191 a0001c0005t0002g0034 a0001c0005t0002g0068 others(8): Show |
11 | 396 | 0.0278 | 11 | c.-35 others(22): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 3493 | chr19 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65723814 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01981.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0080 a0001c0001t0003g0012 a0001c0001t0003g0039 others(12): Show |
16 | 360 | 0.0444 | 11 | c.-19 others(22): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 1706 | chr5 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102286765 | A | AGGGGGCG others(4): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 406 | 0.0025 | 11 | c.-35 others(20): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 102 | chr7 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 406 | 0.0025 | 11 | c.-29 others(28): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111401853 | A | AGTCGCTG others(4): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 326 | 0.0031 | 11 | c.-44 others(22): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 4069 | chr12 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403488 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0027 a0001c0001t0003g0054 a0001c0001t0003g0059 others(4): Show |
8 | 424 | 0.0189 | 11 | c.135 others(26): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80549203 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 | 1 | 322 | 0.0031 | 11 | c.184 others(30): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80566090 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0015 | a0015c0022 | a0015c0022t0017 | a0015c0022t0017g0282 | 1 | 322 | 0.0031 | 11 | c.185 others(28): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572986 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19068.hp2 NA19076.hp1 |
a0001a0002a0004 | a0001c0014a0002c0002a0004c0004 | a0001c0014t0002a0002c0002t0002a0004c0004t0001 | a0001c0014t0002g0045 a0002c0002t0002g0042 a0004c0004t0001g0271 |
3 | 322 | 0.0093 | 11 | c.495 others(28): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80612198 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0017 | a0017c0026 | a0017c0026t0006 | a0017c0026t0006g0203 | 1 | 322 | 0.0031 | 11 | c.988 others(28): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | chr10 | TogoVar | |||||||
SH2D5_chr1_20714731_20737703 | 20717061 | C | CTCATGCG others(4): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 410 | 0.0024 | 11 | c.*47 others(22): Show |
SH2D5 | ENSG00000189410.12 | transcript | ENST00000444387.7 | protein_coding | 2669 | chr1 | TogoVar | |||||||
SH2D7_chr15_78087561_78109362 | 78089520 | T | TTTTTTGT others(4): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 NA18978.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 |
3 | 432 | 0.0069 | 11 | c.-30 others(22): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3040 | chr15 | TogoVar | |||||||
SH3BGRL_chrX_81197102_81303547 | 81238826 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 243 | 0.0041 | 11 | c.45+ others(28): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | chrX | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15296694 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0011 | a0001c0001t0006g0188 a0001c0002t0001g0267 a0001c0002t0011g0329 |
3 | 376 | 0.0080 | 11 | c.330 others(28): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar |