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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGO2_chr2_200521207_200589096 | 200522371 | T | TCTTTCTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0313 | 1 | 381 | 0.0026 | 13 | c.-38 others(24): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3835 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70813914 | T | TCCACACA others(6): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0221 | 1 | 65 | 0.0154 | 13 | c.-22 others(24): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2033 | chr10 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63688315 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 183 | 0.0055 | 13 | c.775 others(30): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0060 | a0001c0001t0003g0155 a0001c0001t0060g0157 |
2 | 49 | 0.0408 | 13 | c.-23 others(24): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24845936 | T | TTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0288 | 1 | 336 | 0.0030 | 13 | c.139 others(28): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845941 | T | TTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02886.hp2 NA18960.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0035 | a0001c0001t0002a0001c0001t0005a0003c0035t0001 | a0001c0001t0002g0214 a0001c0001t0002g0238 a0001c0001t0005g0191 others(1): Show |
4 | 123 | 0.0325 | 13 | c.139 others(28): 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(6): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0323 | 1 | 247 | 0.0040 | 13 | c.802 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860918 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0174 | 1 | 245 | 0.0041 | 13 | c.926 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24885091 | G | GGCATGCA others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG01943.hp2 others(6): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(4): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0109 others(6): Show |
9 | 16 | 0.5625 | 13 | c.164 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 15/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24885091 | G | GGCATGCG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 others(317): Show |
320 | 327 | 0.9786 | 13 | c.164 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 15/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24887107 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 121 | 0.0083 | 13 | c.177 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24887138 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 335 | 0.0030 | 13 | c.177 others(30): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | chr22 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2338789 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 419 | 0.0024 | 13 | c.57+ others(28): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | chr17 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2346415 | C | CAGAGCCT others(6): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0391 | 1 | 420 | 0.0024 | 13 | c.133 others(30): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2753410 | G | GGTCCTGA others(6): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0050 | 1 | 394 | 0.0025 | 13 | c.*25 others(24): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1304 | chr19 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2786765 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01243.hp1 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0212 a0001c0001t0001g0241 others(52): Show |
59 | 223 | 0.2646 | 13 | c.-35 others(24): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 3493 | chr19 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65717077 | A | AATATATT others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 358 | 0.0028 | 13 | c.100 others(30): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65723814 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0065 a0001c0001t0026g0084 |
2 | 241 | 0.0083 | 13 | c.-19 others(24): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 1706 | chr5 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 93 | 0.0108 | 13 | c.-29 others(30): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403488 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0014 a0001c0001t0003g0070 a0001c0001t0003g0071 others(2): Show |
8 | 356 | 0.0225 | 13 | c.135 others(28): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19335870 | C | CTGTATTA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp2 others(51): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0003t0001others(20): Show | a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0011g0049 others(51): Show |
54 | 352 | 0.1534 | 13 | c.513 others(30): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 4/9 | chr8 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19359725 | G | GTGAAGCA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(10): Show |
a0002a0008a0009 | a0002c0004a0002c0005a0002c0011others(2): Show | a0002c0004t0003a0002c0004t0031a0002c0005t0011others(4): Show | a0002c0004t0003g0178 a0002c0004t0003g0191 a0002c0004t0003g0264 others(10): Show |
13 | 352 | 0.0369 | 13 | c.595 others(30): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 5/9 | chr8 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80566090 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0284 | 1 | 79 | 0.0127 | 13 | c.185 others(30): 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(6): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 166 | 0.0060 | 13 | c.495 others(30): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572986 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0300 | 1 | 166 | 0.0060 | 13 | c.495 others(30): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80629036 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0002c0007others(7): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0004others(10): Show | a0001c0001t0004g0154 a0001c0001t0004g0173 a0001c0001t0004g0181 others(22): Show |
26 | 309 | 0.0841 | 13 | c.989 others(30): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089536 | T | TTTTTGTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 393 | 0.0025 | 13 | c.-30 others(24): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3024 | chr15 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2838641 | A | ATTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02723.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0016a0001c0004t0036a0001c0004t0096others(5): Show | a0001c0003t0016g0053 a0001c0004t0036g0067 a0001c0004t0096g0138 others(8): Show |
11 | 200 | 0.0550 | 13 | c.*48 others(24): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 13/13 | 4819 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SH3BP5_chr3_15249353_15337586 | 15320641 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 369 | 0.0027 | 13 | c.201 others(30): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151214280 | A | ACACGGCA others(6): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 280 | 0.0036 | 13 | c.152 others(32): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0063 others(7): Show |
14 | 45 | 0.3111 | 13 | c.769 others(30): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4361489 | G | GCCGGCAG others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0125 | 1 | 356 | 0.0028 | 13 | c.*11 others(22): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 10/10 | 110 | chr19 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17614295 | G | GGAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02165.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0002g0241 |
3 | 59 | 0.0508 | 13 | c.45+ others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 | 1 | 7 | 0.1429 | 13 | c.45+ others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17758561 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02976.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0001g0152 a0001c0001t0001g0168 others(3): Show |
6 | 24 | 0.2500 | 13 | c.115 others(30): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83541312 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 37 | 0.0270 | 13 | c.46- others(30): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83541335 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 322 | 0.0031 | 13 | c.46- others(30): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83576921 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01074.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0040 others(82): Show |
85 | 172 | 0.4942 | 13 | c.624 others(28): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724878 | A | AACTATAT others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0037 a0001c0001t0010g0041 |
2 | 310 | 0.0065 | 13 | c.570 others(28): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724886 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0076 | 1 | 295 | 0.0034 | 13 | c.570 others(28): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SH3GLB1_chr1_86699576_86753184 | 86724888 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0073 a0001c0001t0009g0078 a0001c0001t0017g0077 |
3 | 252 | 0.0119 | 13 | c.570 others(28): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19670839 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0028 others(6): Show |
9 | 132 | 0.0682 | 13 | c.726 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19766483 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 52 | 0.0192 | 13 | c.163 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19831791 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01099.hp1 others(60): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(60): Show |
63 | 73 | 0.8630 | 13 | c.162 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19831798 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0180 a0001c0002t0002g0179 a0001c0002t0002g0188 others(4): Show |
7 | 201 | 0.0348 | 13 | c.162 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19852636 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 125 | 0.0080 | 13 | c.5-1 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 83 | 0.0120 | 13 | c.4+1 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 83 | 0.0120 | 13 | c.4+1 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103650743 | T | TTGTGCCA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(234): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(132): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(233): Show |
237 | 248 | 0.9556 | 13 | c.604 others(32): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103789739 | A | AGGAGGAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0041a0001c0001t0064a0001c0001t0092others(11): Show | a0001c0001t0041g0200 a0001c0001t0064g0047 a0001c0001t0092g0097 others(11): Show |
14 | 248 | 0.0565 | 13 | c.153 others(32): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar |