regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFXN2_chr10_102709636_102748492 | 102720825 | A | AGTTATAG others(14): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 404 | 0.0025 | 21 | c.-25 others(38): Show |
SFXN2 | ENSG00000156398.13 | transcript | ENST00000369893.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SFXN4_chr10_119135767_119170714 | 119152730 | A | ATAGGATT others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124a0001c0002t0001g0125 | 2 | 432 | 0.0046 | 21 | c.732 others(38): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 11/13 | chr10 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156406018 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03490.hp2 NA19002.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005a0001c0002t0010 | a0001c0001t0001g0045a0001c0002t0005g0082a0001c0002t0010g0108 | 3 | 150 | 0.0200 | 21 | c.192 others(40): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156406790 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0092 | 1 | 150 | 0.0067 | 21 | c.192 others(40): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23183238 | T | TAGTAAAT others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0097 | 1 | 354 | 0.0028 | 21 | c.-1+ others(36): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23212392 | A | ATTTTTGT others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 354 | 0.0028 | 21 | c.195 others(38): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23212392 | A | ATTTTTGT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(78): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(22): Show | a0001c0001t0005g0158a0001c0002t0001g0003a0001c0002t0001g0007others(77): Show | 81 | 354 | 0.2288 | 21 | c.195 others(38): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14326111 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0025 | 1 | 102 | 0.0098 | 21 | c.235 others(38): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14980864 | T | TCTATCTC others(14): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0050 | 1 | 102 | 0.0098 | 21 | c.39+ others(40): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66742460 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02258.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0052others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0163a0001c0001t0012g0102others(2): Show | 5 | 302 | 0.0166 | 21 | c.246 others(38): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK1_chr6_134164256_134323112 | 134220058 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 250 | 0.0040 | 21 | c.286 others(40): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134232411 | A | AAGAAAAG others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03831.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0061a0001c0001t0001g0179a0001c0001t0001g0222others(1): Show | 4 | 250 | 0.0160 | 21 | c.286 others(40): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134273592 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 250 | 0.0040 | 21 | c.70- others(38): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03669.hp2 NA18946.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0040a0001c0002t0002g0043a0001c0002t0002g0044others(5): Show | 8 | 142 | 0.0563 | 21 | c.-12 others(42): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50365255 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0032a0001c0001t0001g0199a0001c0001t0002g0054others(2): Show | 5 | 312 | 0.0160 | 21 | c.-23 others(42): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02027.hp1 others(11): Show |
a0001a0003a0005 | a0001c0002a0001c0004a0003c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0003c0006t0001others(1): Show | a0001c0002t0001g0011a0001c0002t0001g0038a0001c0002t0001g0271others(10): Show | 14 | 384 | 0.0365 | 21 | c.*52 others(32): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70835735 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 | 2 | 402 | 0.0050 | 21 | c.28- others(36): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SGPP2_chr2_222419543_222567621 | 222556686 | C | CTACTCCT others(14): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0093 | 1 | 272 | 0.0037 | 21 | c.649 others(38): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTCTTT others(14): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 338 | 0.0030 | 21 | c.63+ others(38): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01168.hp2 others(12): Show |
a0001a0008a0013 | a0001c0001a0001c0004a0008c0028others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0085others(12): Show | 15 | 338 | 0.0444 | 21 | c.63+ others(38): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24887107 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 338 | 0.0030 | 21 | c.177 others(38): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | chr22 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0164a0001c0001t0001g0165others(47): Show | 51 | 406 | 0.1256 | 21 | c.-29 others(38): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SH2D1B_chr1_162390268_162417136 | 162403511 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0109 | 1 | 424 | 0.0024 | 21 | c.135 others(36): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
SH2D2A_chr1_156801243_156821848 | 156817047 | T | TCTCTCTC others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0090 | 3 | 410 | 0.0073 | 21 | c.-34 others(30): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 200 | chr1 | TogoVar | ||||||
SH2D3C_chr9_127733317_127783666 | 127757645 | G | GATTATTA others(14): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19089.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0169a0001c0002t0004g0172 | 2 | 332 | 0.0060 | 21 | c.555 others(38): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089517 | G | GTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0013 | a0013c0008 | a0013c0008t0001 | a0013c0008t0001g0066 | 1 | 432 | 0.0023 | 21 | c.-30 others(32): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3043 | chr15 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79648283 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0169 | 1 | 348 | 0.0029 | 21 | c.45+ others(38): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79700988 | T | TGCCCAGC others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002 | 1 | 348 | 0.0029 | 21 | c.*14 others(32): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 4/4 | 1501 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SH3BP4_chr2_234947017_235060714 | 235036737 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03017.hp2 HG03654.hp2 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0020 | a0002c0001t0007g0304a0002c0001t0007g0314a0002c0001t0020g0032 | 3 | 348 | 0.0086 | 21 | c.118 others(38): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 348 | 0.0029 | 21 | c.118 others(38): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02970.hp2 HG03704.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0005 | a0001c0002t0001g0015a0001c0002t0002g0114a0002c0001t0005g0121 | 3 | 348 | 0.0086 | 21 | c.118 others(38): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAAAAATA others(14): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0263 | 1 | 348 | 0.0029 | 21 | c.118 others(38): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 HG02135.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0030a0002c0001 | a0001c0002t0001a0001c0002t0004a0001c0030t0018others(4): Show | a0001c0002t0001g0041a0001c0002t0001g0230a0001c0002t0004g0222others(9): Show | 12 | 348 | 0.0345 | 21 | c.118 others(38): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3BP5L_chr1_248805446_248830915 | 248829712 | A | ACCTCTCC others(14): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 412 | 0.0024 | 21 | c.-43 others(32): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3798 | chr1 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0218a0001c0002t0001g0002others(16): Show | 35 | 376 | 0.0931 | 21 | c.769 others(38): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH3GL2_chr9_17574066_17802124 | 17623039 | T | TCCTTTCC others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0107a0001c0001t0001g0248a0001c0001t0001g0249others(2): Show | 5 | 260 | 0.0192 | 21 | c.45+ others(38): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL2_chr9_17574066_17802124 | 17645151 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 260 | 0.0039 | 21 | c.45+ others(38): 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(14): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 260 | 0.0039 | 21 | c.115 others(38): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GLB1_chr1_86699576_86753184 | 86724880 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0218 | 1 | 318 | 0.0031 | 21 | c.570 others(36): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121a0001c0001t0005g0124 | 2 | 318 | 0.0063 | 21 | c.570 others(36): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 204 | 0.0049 | 21 | c.*48 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19567549 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0168a0005c0007t0001g0166 | 2 | 204 | 0.0098 | 21 | c.138 others(40): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19813160 | A | AAAGAAGA others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 204 | 0.0049 | 21 | c.162 others(40): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103662341 | C | CGGGGGGG others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0220 | 1 | 250 | 0.0040 | 21 | c.473 others(38): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 7/14 | chr10 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172329540 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0020a0001c0001t0097others(4): Show | a0001c0001t0014g0136a0001c0001t0020g0128a0001c0001t0097g0277others(4): Show | 7 | 280 | 0.0250 | 21 | c.*88 others(32): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 3958 | chr5 | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169146085 | C | CTATATAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0173 | 1 | 216 | 0.0046 | 21 | c.765 others(38): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109199495 | G | GAATGGAA others(14): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 172 | 0.0058 | 21 | c.573 others(40): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SHC2_chr19_411589_466033 | 458769 | G | GGCGGGTT others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168 | 1 | 212 | 0.0047 | 21 | c.468 others(38): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03927.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0001g0336a0001c0001t0001g0337others(1): Show | 4 | 384 | 0.0104 | 21 | c.656 others(38): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAAGGAA others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0195a0001c0001t0001g0221others(1): Show | 4 | 302 | 0.0133 | 21 | c.118 others(40): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar |