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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPIND1_chr22_20769113_20792720 | 20780775 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18952.hp1 NA18974.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0049 |
5 | 175 | 0.0286 | 26 | c.889 others(41): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101136456 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0162 others(1): Show |
4 | 244 | 0.0164 | 26 | c.108 others(43): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE2_chr2_223970045_224044286 | 224005065 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18939.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0044 others(4): Show |
7 | 258 | 0.0271 | 26 | c.-22 others(43): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERPINE3_chr13_51334691_51369735 | 51355223 | T | TTCCACAG others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(88): Show |
a0001a0003a0006 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 others(52): Show |
91 | 430 | 0.2116 | 26 | c.100 others(41): Show |
SERPINE3 | ENSG00000253309.7 | transcript | ENST00000681248.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167759400 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 NA18945.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0111 a0002c0002t0001g0064 a0002c0002t0001g0085 others(1): Show |
4 | 125 | 0.0320 | 26 | c.-19 others(45): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772864 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 95 | 0.0105 | 26 | c.-18 others(45): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167829345 | C | CTATGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02615.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0209 a0002c0002t0001g0014 |
2 | 104 | 0.0192 | 26 | c.*40 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 3777 | chr3 | TogoVar | |||||||
SERTAD1_chr19_40416589_40430992 | 40419253 | A | AGAGAGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 1 | 276 | 0.0036 | 26 | c.*35 others(37): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 2335 | chr19 | TogoVar | |||||||
SERTM1_chr13_36669020_36702839 | 36678679 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 2 | 378 | 0.0053 | 26 | c.-17 others(45): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SESN3_chr11_95160513_95236202 | 95186194 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18957.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0002g0083 a0001c0001t0002g0142 a0001c0001t0007g0118 others(2): Show |
5 | 37 | 0.1351 | 26 | c.526 others(41): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179185682 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(17): Show | a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 others(72): Show |
75 | 272 | 0.2757 | 26 | c.56- others(41): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179185690 | A | ATATAGTA others(19): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0202 | 1 | 272 | 0.0037 | 26 | c.56- others(41): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179229749 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0172 | 1 | 146 | 0.0068 | 26 | c.-26 others(45): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44679937 | G | GATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01934.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0002a0002c0002t0002 | a0001c0005t0002g0031 a0002c0002t0002g0042 |
2 | 11 | 0.1818 | 26 | c.-12 others(37): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 950 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44787860 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02723.hp1 HG03579.hp1 |
a0001a0003 | a0001c0001a0001c0009a0003c0003 | a0001c0001t0002a0001c0009t0002a0003c0003t0008 | a0001c0001t0002g0127 a0001c0009t0002g0106 a0003c0003t0008g0009 |
3 | 8 | 0.3750 | 26 | c.487 others(45): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44885842 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0132 | 1 | 78 | 0.0128 | 26 | c.540 others(45): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD3_chr14_99392748_99485859 | 99423588 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0051 others(6): Show |
9 | 33 | 0.2727 | 26 | c.676 others(43): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99444631 | G | GTAGGATC others(19): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 288 | 0.0035 | 26 | c.675 others(45): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9437522 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0166 | 1 | 137 | 0.0073 | 26 | c.567 others(43): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9445965 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0201 | 1 | 147 | 0.0068 | 26 | c.152 others(43): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD7_chr4_139501038_139561219 | 139502836 | G | GAGGAGGT others(19): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 314 | 0.0032 | 26 | c.*88 others(37): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 3201 | chr4 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49441221 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0032 | a0003c0004t0005g0208 a0003c0004t0005g0221 a0003c0004t0005g0223 others(1): Show |
4 | 247 | 0.0162 | 26 | c.-39 others(37): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 3052 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49441221 | G | GTGTATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02896.hp2 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0075 a0004c0005t0006g0076 |
2 | 245 | 0.0082 | 26 | c.-39 others(37): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 3052 | chr13 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132271661 | A | AAGCAACA others(19): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03540.hp2 HG06807.hp1 |
a0020a0025 | a0020c0018a0025c0043 | a0020c0018t0012a0025c0043t0012 | a0020c0018t0012g0145 a0020c0018t0012g0146 a0025c0043t0012g0359 |
3 | 360 | 0.0083 | 26 | c.719 others(41): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 24/25 | chr9 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26333547 | A | AGTCTACT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG03209.hp1 others(4): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0004 | a0002c0002t0001a0002c0002t0009a0002c0012t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0088 a0002c0002t0001g0092 others(4): Show |
7 | 238 | 0.0294 | 26 | c.201 others(45): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348612 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 164 | 0.0061 | 26 | c.240 others(43): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02647.hp2 |
a0002a0009 | a0002c0012a0009c0028 | a0002c0012t0004a0009c0028t0016 | a0002c0012t0004g0147 a0009c0028t0016g0139 |
2 | 71 | 0.0282 | 26 | c.240 others(43): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26369341 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0054 a0001c0001t0002g0201 a0001c0001t0002g0223 others(7): Show |
10 | 94 | 0.1064 | 26 | c.279 others(45): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF3A3_chr1_37951975_37995022 | 37983586 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0319 | 1 | 2 | 0.5000 | 26 | c.468 others(41): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 12 | 0.0833 | 26 | c.495 others(41): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATAATATA others(19): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 77 | 0.0130 | 26 | c.124 others(45): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582237 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0063 | 1 | 299 | 0.0033 | 26 | c.124 others(45): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | chr22 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 others(11): Show |
14 | 131 | 0.1069 | 26 | c.124 others(43): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41311572 | C | CCCGAACT others(19): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0327 | 1 | 382 | 0.0026 | 26 | c.-24 others(37): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2100 | chr8 | TogoVar | |||||||
SFRP2_chr4_153775591_153794083 | 153789505 | G | GGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 21 | 0.0476 | 26 | c.-67 others(35): Show |
SFRP2 | ENSG00000145423.5 | transcript | ENST00000274063.5 | protein_coding | 423 | chr4 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37911917 | A | ATACTCAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(90): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0003a0004c0012t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(16): Show |
93 | 470 | 0.1979 | 26 | c.791 others(41): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131783792 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02148.hp2 NA18941.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0228 others(2): Show |
5 | 37 | 0.1351 | 26 | c.240 others(45): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFT2D1_chr6_166314728_166347545 | 166318129 | G | GCCCGGAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG02717.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005 | a0001c0002t0003g0020 a0001c0002t0003g0047 a0001c0002t0003g0171 others(10): Show |
18 | 386 | 0.0466 | 26 | c.*20 others(37): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 1598 | chr6 | TogoVar | |||||||
SFT2D2_chr1_168221004_168258021 | 168229689 | T | TAGTTCTT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0065a0001c0001t0074 | a0001c0001t0018g0018 a0001c0001t0018g0073 a0001c0001t0065g0101 others(1): Show |
5 | 350 | 0.0143 | 26 | c.64- others(41): Show |
SFT2D2 | ENSG00000213064.10 | transcript | ENST00000271375.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SFT2D3_chr2_127696497_127710242 | 127700138 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 223 | 0.0045 | 26 | c.-13 others(37): Show |
SFT2D3 | ENSG00000173349.6 | transcript | ENST00000310981.6 | protein_coding | 1358 | chr2 | TogoVar | |||||||
SFTPC_chr8_22156798_22169479 | 22165882 | C | CGTGTGTG others(19): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18747.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0005 a0002c0002t0002g0001 |
2 | 48 | 0.0417 | 26 | c.*16 others(37): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 1404 | chr8 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73047249 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0158 others(1): Show |
4 | 236 | 0.0169 | 26 | c.172 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73047251 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show |
10 | 237 | 0.0422 | 26 | c.172 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73047283 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 234 | 0.0043 | 26 | c.172 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73050388 | G | GCGCACAC others(19): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 71 | 0.0141 | 26 | c.171 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73050388 | G | GCGCGCAC others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01975.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 others(5): Show |
8 | 78 | 0.1026 | 26 | c.171 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73050388 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 71 | 0.0141 | 26 | c.171 others(43): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156350247 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0053 | a0001c0001t0001g0146 a0001c0002t0053g0085 |
2 | 74 | 0.0270 | 26 | c.192 others(43): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156406018 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0144 | 1 | 22 | 0.0455 | 26 | c.192 others(45): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156406790 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01258.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0024a0001c0002t0061 | a0001c0002t0024g0100 a0001c0002t0061g0103 |
2 | 19 | 0.1053 | 26 | c.192 others(45): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |