| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SRPK2_chr7_105111374_105393921 | 105170892 | AAAGAAAG others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | 282 | 0.0142 | -24 | c.230 others(41): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
| SRPK2_chr7_105111374_105393921 | 105170910 | AGAAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG01175.hp2 NA18956.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0132 | 3 | 282 | 0.0106 | -24 | c.230 others(41): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
| SRPK2_chr7_105111374_105393921 | 105205517 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0125a0001c0001t0010g0085 | 2 | 282 | 0.0071 | -24 | c.72- others(39): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| SRPK2_chr7_105111374_105393921 | 105233091 | AGAAGGAA others(17): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 282 | 0.0036 | -24 | c.72- others(41): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| SRRM4_chr12_118976541_119168051 | 119075440 | GTGATGAT others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0010a0004c0004t0045 | a0001c0001t0010g0264a0004c0004t0045g0054 | 2 | 328 | 0.0061 | -24 | c.132 others(43): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SRRM4_chr12_118976541_119168051 | 119158967 | TTGTGTGT others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0091 | 1 | 328 | 0.0031 | -24 | c.*21 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 2197 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| SRRM4_chr12_118976541_119168051 | 119160277 | GTCTCTCT others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0143 | a0002c0002t0143g0184 | 1 | 328 | 0.0031 | -24 | c.*34 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 3491 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| SRRM4_chr12_118976541_119168051 | 119160289 | GTCTCTCT others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0079 | a0003c0003t0079g0028 | 1 | 328 | 0.0031 | -24 | c.*35 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 3502 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| SRSF11_chr1_70216380_70258052 | 70248959 | CACAGAGG others(17): Show |
C | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 338 | 0.0030 | -24 | c.102 others(41): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SRSF11_chr1_70216380_70258052 | 70254510 | CGTGTGTG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 338 | 0.0059 | -24 | c.*37 others(35): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 1459 | chr1 | TogoVar | ||||||
| SSBP2_chr5_81407804_81756097 | 81445154 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0123 | 1 | 206 | 0.0049 | -24 | c.802 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
| SSBP2_chr5_81407804_81756097 | 81488010 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0040a0001c0001t0041others(2): Show | a0001c0001t0017g0086a0001c0001t0040g0085a0001c0001t0041g0084others(7): Show | 10 | 206 | 0.0485 | -24 | c.432 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | ||||||
| SSBP2_chr5_81407804_81756097 | 81501212 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02683.hp2 HG02735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0071a0001c0001t0072others(2): Show | a0001c0001t0016g0125a0001c0001t0071g0126a0001c0001t0072g0127others(2): Show | 5 | 206 | 0.0243 | -24 | c.373 others(43): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
| SSBP2_chr5_81407804_81756097 | 81736166 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0055a0001c0001t0071others(2): Show | a0001c0001t0016g0125a0001c0001t0055g0120a0001c0001t0071g0126others(2): Show | 5 | 206 | 0.0243 | -24 | c.62+ others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SSBP4_chr19_18414398_18439562 | 18431190 | GGTCCTGG others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(165): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(73): Show | 168 | 302 | 0.5563 | -24 | c.370 others(39): Show |
SSBP4 | ENSG00000130511.16 | transcript | ENST00000270061.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SSC4D_chr7_76384337_76414697 | 76405299 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0123a0003c0003t0001g0124 | 2 | 388 | 0.0052 | -24 | c.-66 others(39): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
| SSH1_chr12_108773191_108862583 | 108777088 | GGAGGCGG others(17): Show |
G | downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0036 | 1 | 332 | 0.0030 | -24 | c.*10 others(37): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 1102 | chr12 | TogoVar | ||||||
| SSH1_chr12_108773191_108862583 | 108836012 | ACTATATT others(17): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 332 | 0.0030 | -24 | c.111 others(43): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | ||||||
| SSH2_chr17_29620938_29935228 | 29913347 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 232 | 0.0043 | -24 | c.63+ others(41): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
| SSMEM1_chr7_130202860_130221844 | 130214945 | TAAGCTAT others(17): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 366 | 0.0027 | -24 | c.239 others(41): Show |
SSMEM1 | ENSG00000165120.5 | transcript | ENST00000297819.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SSPN_chr12_26190573_26239777 | 26191677 | TACACACA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(116): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0063others(109): Show | 119 | 384 | 0.3099 | -24 | c.-39 others(35): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3895 | chr12 | TogoVar | ||||||
| SSTR1_chr14_38202904_38218067 | 38210558 | CGCTCTGA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03579.hp1 NA18973.hp2 others(3): Show |
a0000 | a0000c0004a0000c0007 | a0000c0004t0012a0000c0004t0034a0000c0007t0035 | a0000c0004t0012g0003a0000c0004t0034g0005a0000c0007t0035g0003 | 6 | 456 | 0.0132 | -24 | c.*20 others(31): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 3/3 | 20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
| SSTR2_chr17_73160010_73181633 | 73162718 | AAAAGAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(67): Show | a0001c0001t0006g0004a0001c0001t0006g0009a0001c0001t0006g0010others(116): Show | 142 | 454 | 0.3128 | -24 | c.-26 others(35): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 2291 | chr17 | TogoVar | ||||||
| SSU72L2_chr11_4236641_4247706 | 4237134 | CTCCCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 366 | 0.0055 | -24 | c.*48 others(35): Show |
SSU72L2 | ENSG00000284306.2 | transcript | ENST00000640805.2 | protein_coding | 4506 | chr11 | TogoVar | ||||||
| SSU72L5_chr11_4228217_4239287 | 4237134 | CTCCCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 354 | 0.0057 | -24 | c.*32 others(35): Show |
SSU72L5 | ENSG00000284018.2 | transcript | ENST00000639584.2 | protein_coding | 2848 | chr11 | TogoVar | ||||||
| SSX4_chrX_48378539_48398347 | 48381133 | TTTCTTTC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 2 | 104 | 0.0192 | -24 | c.-24 others(35): Show |
SSX4 | ENSG00000268009.6 | transcript | ENST00000595689.3 | protein_coding | 2405 | chrX | TogoVar | ||||||
| SSX5_chrX_48181220_48201795 | 48186387 | TGTGTGTG others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0008 | a0004c0008t0042 | a0004c0008t0042g0033 | 1 | 326 | 0.0031 | -24 | c.*45 others(33): Show |
SSX5 | ENSG00000165583.16 | transcript | ENST00000347757.6 | protein_coding | 8/8 | 1220 | chrX | TogoVar | |||||
| SSX5_chrX_48181220_48201795 | 48198559 | GGAAAGAA others(17): Show |
G | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 326 | 0.0031 | -24 | c.-18 others(35): Show |
SSX5 | ENSG00000165583.16 | transcript | ENST00000347757.6 | protein_coding | 1765 | chrX | TogoVar | ||||||
| ST13_chr22_40819535_40861639 | 40821804 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 344 | 0.0029 | -24 | c.*47 others(35): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 2730 | chr22 | TogoVar | ||||||
| ST3GAL1_chr8_133449848_133576887 | 133551541 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 332 | 0.0030 | -24 | c.-58 others(43): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| ST3GAL1_chr8_133449848_133576887 | 133576569 | AAAACAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00733.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0040a0001c0002t0002others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0039a0001c0001t0001g0043others(22): Show | 25 | 332 | 0.0753 | -24 | c.-54 others(35): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 4683 | chr8 | TogoVar | ||||||
| ST3GAL3_chr1_43702536_43936159 | 43723293 | GAGACGGG others(17): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070 | 2 | 274 | 0.0073 | -24 | c.-30 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43765792 | CGCGCGCG others(17): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 274 | 0.0037 | -24 | c.119 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43857582 | CCCTCCCT others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 274 | 0.0037 | -24 | c.302 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875897 | CTCTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0009a0001c0001t0002g0017a0001c0001t0002g0018others(17): Show | 20 | 274 | 0.0730 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875929 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01167.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0016others(16): Show | 19 | 274 | 0.0693 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875932 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0002g0003a0001c0001t0002g0021others(18): Show | 21 | 274 | 0.0766 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875935 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0032others(6): Show | 9 | 274 | 0.0329 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875938 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA19000.hp1 NA19082.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197a0001c0001t0002g0011a0001c0001t0002g0031others(2): Show | 5 | 274 | 0.0183 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875941 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | NA18964.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0097 | 2 | 274 | 0.0073 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST3GAL3_chr1_43702536_43936159 | 43875944 | CTTCTTCT others(17): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0102 | 2 | 274 | 0.0073 | -24 | c.303 others(43): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST6GAL1_chr3_186925526_187083553 | 186926202 | CATATATA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0139a0001c0001t0003g0024a0001c0001t0003g0157others(6): Show | 9 | 362 | 0.0249 | -24 | c.-49 others(35): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 4323 | chr3 | TogoVar | ||||||
| ST6GAL1_chr3_186925526_187083553 | 186984740 | TTCCCTCC others(17): Show |
T | intron_variant | MODIFIER | HG02683.hp2 NA18747.hp1 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0003g0263a0001c0001t0006g0287a0001c0001t0009g0294others(2): Show | 5 | 362 | 0.0138 | -24 | c.-18 others(45): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ST6GALNAC1_chr17_76619763_76648757 | 76639638 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0003 | a0001c0001t0002g0224a0003c0002t0003g0059 | 2 | 412 | 0.0049 | -24 | c.131 others(41): Show |
ST6GALNAC1 | ENSG00000070526.15 | transcript | ENST00000156626.12 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| ST6GALNAC2_chr17_76560377_76590860 | 76590033 | GTTTTTTT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01070.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0098others(8): Show | 14 | 426 | 0.0329 | -24 | c.-42 others(35): Show |
ST6GALNAC2 | ENSG00000070731.11 | transcript | ENST00000225276.10 | protein_coding | 4174 | chr17 | TogoVar | ||||||
| ST6GALNAC3_chr1_76069746_76639603 | 76292273 | GTAGCTTC others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0081a0001c0001t0003g0026a0001c0001t0003g0077others(12): Show | 15 | 102 | 0.1471 | -24 | c.19- others(41): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST6GALNAC5_chr1_76862480_77072546 | 76872096 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG01358.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0012a0002c0003t0014 | a0002c0002t0012g0196a0002c0003t0014g0172a0002c0003t0014g0173others(1): Show | 4 | 202 | 0.0198 | -24 | c.261 others(41): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
| ST6GALNAC5_chr1_76862480_77072546 | 77016258 | CTCCTCCT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 202 | 0.0050 | -24 | c.262 others(43): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST7_chr7_116948501_117235176 | 116968281 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01496.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0064others(14): Show | 17 | 188 | 0.0904 | -24 | c.151 others(43): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ST7_chr7_116948501_117235176 | 116968285 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0188 | 3 | 188 | 0.0160 | -24 | c.151 others(43): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |