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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAA2_chr11_18240240_18253668 | 18252057 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 472 | 0.0064 | -18 | c.-34 others(29): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3390 | chr11 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47208597 | TGTATTTT others(11): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 378 | 0.0026 | -18 | c.949 others(33): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAFB_chr19_5618083_5673478 | 5670986 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0228 |
2 | 37 | 0.0541 | -18 | c.*26 others(29): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 2509 | chr19 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6327728 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | NA18971.hp1 NA19057.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0005g0214 others(1): Show |
4 | 89 | 0.0449 | -18 | c.*34 others(29): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1682 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6343397 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0137 a0001c0001t0001g0172 a0001c0001t0001g0184 others(30): Show |
33 | 39 | 0.8462 | -18 | c.186 others(35): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6351232 | AATTATTA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0022 | 1 | 177 | 0.0056 | -18 | c.-24 others(29): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2266 | chr7 | TogoVar | |||||||
SAG_chr2_233302816_233352055 | 233321986 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02083.hp1 others(22): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0252 others(21): Show |
25 | 61 | 0.4098 | -18 | c.376 others(33): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 939779 | AGCCAGTG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(190): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
193 | 432 | 0.4468 | -18 | c.119 others(35): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118440679 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0123 a0002c0004t0002g0047 |
2 | 186 | 0.0108 | -18 | c.193 others(33): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118491946 | TGAAAATA others(11): Show |
T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 186 | 0.0054 | -18 | c.193 others(37): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118522181 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0046 a0001c0001t0003g0188 |
2 | 186 | 0.0108 | -18 | c.192 others(37): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118522198 | ATACACAC others(11): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 186 | 0.0054 | -18 | c.192 others(37): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118559993 | TGCTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0018 a0001c0001t0002g0078 a0001c0001t0003g0038 others(5): Show |
8 | 186 | 0.0430 | -18 | c.192 others(37): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118605765 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0003g0038 others(2): Show |
5 | 6 | 0.8333 | -18 | c.13+ others(35): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
SAMD14_chr17_50105040_50135160 | 50131534 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(93): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0252 a0001c0001t0001g0260 others(67): Show |
96 | 146 | 0.6575 | -18 | c.-20 others(29): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 1375 | chr17 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130224592 | TTTATTAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 130 | 0.0077 | -18 | c.-19 others(29): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 1642 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0130 others(2): Show |
5 | 14 | 0.3571 | -18 | c.196 others(33): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54576001 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 20 | 0.0500 | -18 | c.196 others(35): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626051 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 248 | 0.0040 | -18 | c.196 others(37): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626055 | TGTGTGCG others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0003a0001c0018t0084 | a0001c0001t0003g0136 a0001c0018t0084g0001 |
2 | 224 | 0.0089 | -18 | c.196 others(37): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54630908 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0055 a0002c0003t0001g0044 |
2 | 48 | 0.0417 | -18 | c.196 others(37): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54653301 | ATATTATT others(11): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0191 | 1 | 62 | 0.0161 | -18 | c.197 others(37): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG02258.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0256 others(7): Show |
10 | 47 | 0.2128 | -18 | c.197 others(37): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54727166 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0078 | a0001c0001t0004g0064 a0001c0001t0078g0233 |
2 | 22 | 0.0909 | -18 | c.716 others(35): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54795970 | ATGTGTGT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0072 | a0001c0001t0025g0137 a0001c0001t0072g0179 |
2 | 74 | 0.0270 | -18 | c.*70 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2659 | chr14 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36891087 | ATGGCTGA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0127 | 1 | 338 | 0.0030 | -18 | c.*18 others(29): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 16/16 | 1827 | chr20 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36924288 | AAAGAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0334 | 1 | 338 | 0.0030 | -18 | c.696 others(35): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14493572 | ACAACACA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0081 others(72): Show |
78 | 404 | 0.1931 | -18 | c.919 others(35): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 7/7 | chr21 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14523361 | TGACTTGC others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 406 | 0.0025 | -18 | c.58- others(33): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 127958635 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG03688.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0025 |
2 | 22 | 0.0909 | -18 | c.206 others(37): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128029913 | GTATGTAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 others(3): Show |
6 | 348 | 0.0172 | -18 | c.-19 others(29): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1855 | chr2 | TogoVar | |||||||
SAP25_chr7_100567228_100578900 | 100570843 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 |
7 | 118 | 0.0593 | -18 | c.*14 others(29): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 1384 | chr7 | TogoVar | |||||||
SAPCD1_chr6_31757656_31769850 | 31768155 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 416 | 0.0024 | -18 | c.*36 others(29): Show |
SAPCD1 | ENSG00000228727.10 | transcript | ENST00000415669.4 | protein_coding | 3306 | chr6 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669251 | TCCCCTCA others(11): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0137 | 1 | 238 | 0.0042 | -18 | c.249 others(37): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARM1_chr17_28366694_28409049 | 28367439 | GTGTCCAC others(11): Show |
G | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0090 | 1 | 334 | 0.0030 | -18 | c.-45 others(29): Show |
SARM1 | ENSG00000004139.14 | transcript | ENST00000585482.6 | protein_coding | 4254 | chr17 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109219262 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(131): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(112): Show |
134 | 151 | 0.8874 | -18 | c.137 others(35): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109221994 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 321 | 0.0031 | -18 | c.137 others(35): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222004 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 352 | 0.0028 | -18 | c.137 others(35): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148349241 | CTTCTTTC others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 NA18522.hp2 |
a0001a0008 | a0001c0003a0001c0009a0008c0021 | a0001c0003t0014a0001c0009t0014a0008c0021t0005 | a0001c0003t0014g0088 a0001c0009t0014g0094 a0008c0021t0005g0093 |
3 | 315 | 0.0095 | -18 | c.156 others(35): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148425707 | CTCCCATC others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00639.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(13): Show | a0001c0001t0001g0050 a0001c0001t0002g0192 a0001c0001t0030g0043 others(13): Show |
16 | 320 | 0.0500 | -18 | c.286 others(37): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148446088 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0115 others(85): Show |
88 | 149 | 0.5906 | -18 | c.386 others(35): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01167.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0010 | a0001c0001t0002a0001c0007t0005a0002c0010t0003 | a0001c0001t0002g0174 a0001c0007t0005g0272 a0002c0010t0003g0002 others(3): Show |
6 | 27 | 0.2222 | -18 | c.628 others(33): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148511324 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0182 | 1 | 18 | 0.0556 | -18 | c.730 others(35): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0096 a0001c0001t0005g0249 a0001c0001t0008g0060 others(1): Show |
4 | 40 | 0.1000 | -18 | c.209 others(37): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 NA18960.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 28 | 0.1071 | -18 | c.-14 others(29): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386704 | GCGCGCGC others(11): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03491.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0141 a0001c0001t0003g0209 a0001c0001t0005g0016 |
3 | 220 | 0.0136 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386706 | GCGCGCGC others(11): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0144 others(4): Show |
7 | 223 | 0.0314 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386708 | GCGCGCGC others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01109.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0060 others(26): Show |
29 | 200 | 0.1450 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386710 | GCGCGCGC others(11): Show |
G | intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0053 others(5): Show |
8 | 220 | 0.0364 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386712 | GCGCGCAC others(11): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0130 a0001c0001t0002g0172 a0001c0001t0002g0178 others(2): Show |
5 | 243 | 0.0206 | -18 | c.347 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar |