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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGPP2_chr2_222419543_222567621 | 222565903 | ATATATT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp2 others(55): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0063 others(55): Show |
58 | 272 | 0.2132 | -6 | c.*70 others(17): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 3283 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222565905 | ATATTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0022a0001c0003t0027others(3): Show | a0001c0001t0001g0251 a0001c0003t0022g0190 a0001c0003t0027g0032 others(5): Show |
8 | 272 | 0.0294 | -6 | c.*70 others(17): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 3285 | chr2 | TogoVar | |||||||
SGSH_chr17_80204276_80225333 | 80220722 | CTCCGGA | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01255.hp2 others(12): Show |
a0001a0003a0010 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0004t0001others(2): Show | a0001c0001t0003g0054 a0001c0001t0005g0020 a0001c0004t0001g0016 others(6): Show |
15 | 420 | 0.0357 | -6 | c.-41 others(15): Show |
SGSH | ENSG00000181523.13 | transcript | ENST00000326317.11 | protein_coding | 390 | chr17 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24831120 | TGGAGAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(18): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0013others(12): Show | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0072 others(18): Show |
21 | 338 | 0.0621 | -6 | c.64- others(23): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24851449 | GGAGAGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG02723.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0003a0002c0002t0003a0003c0008t0001 | a0001c0001t0003g0151 a0001c0001t0003g0311 a0002c0002t0003g0070 others(2): Show |
5 | 338 | 0.0148 | -6 | c.455 others(23): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24887107 | TTGTGTG | T | intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 HG01496.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(13): Show | a0001c0001t0001g0054 a0001c0001t0001g0109 a0001c0001t0001g0110 others(17): Show |
20 | 338 | 0.0592 | -6 | c.177 others(23): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24888938 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0012a0002c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0053 others(10): Show |
13 | 338 | 0.0385 | -6 | c.177 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24903975 | CAAAAAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0139 others(94): Show |
97 | 338 | 0.2870 | -6 | c.273 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24903998 | GGAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0139 others(95): Show |
98 | 338 | 0.2899 | -6 | c.273 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2352767 | CTTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01261.hp1 others(27): Show |
a0002a0003a0022others(1): Show | a0002c0002a0002c0004a0003c0006others(3): Show | a0002c0002t0001a0002c0002t0023a0002c0004t0001others(5): Show | a0002c0002t0001g0074 a0002c0002t0001g0131 a0002c0002t0001g0133 others(25): Show |
30 | 422 | 0.0711 | -6 | c.134 others(23): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2760517 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01261.hp2 others(12): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0003a0001c0004t0017 | a0001c0003t0003g0169 a0001c0004t0003g0040 a0001c0004t0003g0129 others(12): Show |
15 | 396 | 0.0379 | -6 | c.699 others(21): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65667953 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0039others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0015 others(45): Show |
57 | 360 | 0.1583 | -6 | c.*22 others(17): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 11/11 | 2287 | chr5 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65704035 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0004g0011 a0001c0001t0004g0045 a0001c0001t0004g0051 others(14): Show |
20 | 360 | 0.0556 | -6 | c.374 others(21): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65705234 | GGAGTTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0094 others(50): Show |
63 | 360 | 0.1750 | -6 | c.275 others(21): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65707395 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0225 a0001c0001t0007g0010 a0001c0001t0007g0035 others(3): Show |
7 | 360 | 0.0194 | -6 | c.274 others(23): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAA | G | intron_variant | MODIFIER | HG02135.hp2 HG03098.hp2 HG04228.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0250 others(4): Show |
7 | 326 | 0.0215 | -6 | c.732 others(23): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111429015 | CGAGGAG | C | intron_variant | MODIFIER | HG00099.hp1 HG04204.hp1 NA19006.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0211 a0001c0001t0001g0266 a0003c0003t0001g0228 |
3 | 326 | 0.0092 | -6 | c.732 others(25): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124366876 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01070.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0111 a0001c0001t0001g0124 others(16): Show |
22 | 318 | 0.0692 | -6 | c.201 others(23): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124369789 | TTTTTTG | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0084 others(10): Show |
14 | 318 | 0.0440 | -6 | c.202 others(21): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375142 | ACTCTCT | A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0099 others(6): Show |
9 | 318 | 0.0283 | -6 | c.*37 others(17): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1983 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375173 | CTCTCTA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02257.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0131 a0001c0001t0001g0244 |
3 | 318 | 0.0094 | -6 | c.*37 others(17): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2014 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375175 | CTCTATA | C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 318 | 0.0031 | -6 | c.*37 others(17): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2016 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | CTATATA | C | downstream_gene_variant | MODIFIER | HG01993.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0247 |
2 | 318 | 0.0063 | -6 | c.*37 others(17): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162391599 | TGAGTTA | T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0036 a0001c0002t0002g0037 others(3): Show |
7 | 424 | 0.0165 | -6 | c.*56 others(17): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 3668 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403507 | AAAAAAT | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0013 | a0001c0001t0003g0012 a0001c0001t0003g0063 a0001c0001t0003g0097 others(3): Show |
8 | 424 | 0.0189 | -6 | c.135 others(21): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403509 | AAAATAT | A | intron_variant | MODIFIER | HG03195.hp2 HG03669.hp2 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0003g0075 others(3): Show |
6 | 424 | 0.0142 | -6 | c.135 others(21): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403511 | AATATAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01169.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0187 others(14): Show |
29 | 424 | 0.0684 | -6 | c.135 others(21): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403701 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0123 others(57): Show |
122 | 424 | 0.2877 | -6 | c.135 others(21): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162416306 | AGGAAGG | A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0143 others(1): Show |
4 | 424 | 0.0094 | -6 | c.-42 others(17): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4171 | chr1 | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156819504 | TTTTTTA | T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(12): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0028 others(4): Show |
15 | 410 | 0.0366 | -6 | c.-28 others(17): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 2657 | chr1 | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156821453 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00741.hp1 others(44): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0032 others(7): Show |
47 | 410 | 0.1146 | -6 | c.-47 others(17): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 4606 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6747793 | AAATAAT | A | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18942.hp2 NA18950.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0130 others(1): Show |
10 | 380 | 0.0263 | -6 | c.*47 others(17): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 4366 | chr19 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6771141 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01516.hp1 HG02257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0001a0001c0009t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0013 a0001c0009t0002g0175 a0002c0003t0001g0011 others(13): Show |
21 | 380 | 0.0553 | -6 | c.-38 others(17): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 3707 | chr19 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127742031 | CTGTGGT | C | intron_variant | MODIFIER | HG01255.hp1 HG01257.hp1 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0001t0001g0222 others(8): Show |
11 | 332 | 0.0331 | -6 | c.191 others(21): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 8/11 | chr9 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127757602 | AGATGAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0021others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0021t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(113): Show |
139 | 332 | 0.4187 | -6 | c.555 others(23): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80562028 | TACACAC | T | intron_variant | MODIFIER | HG03704.hp2 NA18945.hp2 NA18948.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 others(3): Show |
6 | 322 | 0.0186 | -6 | c.185 others(23): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572945 | AATATAT | A | intron_variant | MODIFIER | HG01934.hp2 NA18906.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002a0002c0002t0003 | a0001c0001t0007g0201 a0002c0002t0002g0258 a0002c0002t0003g0109 |
3 | 322 | 0.0093 | -6 | c.495 others(23): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D5_chr1_20714731_20737703 | 20730306 | CGGGGGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(90): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0006others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0026 others(27): Show |
93 | 410 | 0.2268 | -6 | c.-43 others(23): Show |
SH2D5 | ENSG00000189410.12 | transcript | ENST00000444387.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SH2D6_chr2_85413714_85442029 | 85418648 | ACACGCG | A | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029 a0001c0001t0005g0084 a0001c0001t0005g0085 |
4 | 418 | 0.0096 | -6 | c.-10 others(17): Show |
SH2D6 | ENSG00000152292.18 | transcript | ENST00000469800.7 | protein_coding | 65 | chr2 | TogoVar | |||||||
SH2D7_chr15_78087561_78109362 | 78090623 | CCATCAT | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02155.hp1 HG02523.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0057 others(6): Show |
15 | 432 | 0.0347 | -6 | c.-19 others(17): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 1937 | chr15 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79641147 | CTTTTGT | C | intron_variant | MODIFIER | HG01257.hp2 HG01981.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 others(3): Show |
6 | 348 | 0.0172 | -6 | c.45+ others(21): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79641150 | TTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0043 others(56): Show |
64 | 348 | 0.1839 | -6 | c.45+ others(21): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79648255 | CATATAT | C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01099.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0308 a0001c0001t0001g0309 others(17): Show |
22 | 348 | 0.0632 | -6 | c.45+ others(23): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79676605 | ATGTGTG | A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0015 | a0001c0001t0003g0264 a0001c0001t0006g0109 a0001c0001t0015g0226 others(3): Show |
6 | 348 | 0.0172 | -6 | c.231 others(23): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282386 | GCCGGGA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0005 |
35 | 422 | 0.0829 | -6 | c.*12 others(17): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 865 | chr1 | TogoVar | |||||||
SH3BGRL_chrX_81197102_81303547 | 81205502 | GTGTATA | G | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0138 a0001c0001t0002g0028 a0001c0001t0002g0140 others(2): Show |
5 | 243 | 0.0206 | -6 | c.45+ others(21): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81205504 | GTATATA | G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 243 | 0.0041 | -6 | c.45+ others(21): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81218794 | TATATAG | T | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0041 others(6): Show |
9 | 243 | 0.0370 | -6 | c.45+ others(23): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81286498 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0159 a0001c0001t0002g0046 a0001c0001t0004g0026 others(2): Show |
5 | 243 | 0.0206 | -6 | c.312 others(23): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH3BGRL_chrX_81197102_81303547 | 81286519 | AAAAAAG | A | intron_variant | MODIFIER | HG01258.hp1 HG01358.hp1 HG01943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0086 |
5 | 243 | 0.0206 | -6 | c.312 others(23): Show |
SH3BGRL | ENSG00000131171.13 | transcript | ENST00000373212.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar |