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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINB8_chr18_63965081_63994374 | 63970139 | G | GGCGGCGG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0039 | 2 | 466 | 0.0043 | 18 | c.-31 others(25): Show |
SERPINB8 | ENSG00000166401.15 | transcript | ENST00000397985.7 | protein_coding | 1/7 | 8158 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERPINB9_chr6_2882270_2908309 | 2900885 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG03486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0238 a0001c0001t0006g0027 a0001c0001t0008g0240 others(4): Show |
8 | 462 | 0.0173 | 18 | c.-10 others(33): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2900885 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG01993.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0002g0154 others(10): Show |
13 | 462 | 0.0281 | 18 | c.-10 others(33): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2900885 | T | TCTCTCAC others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0061a0001c0001t0064others(4): Show | a0001c0001t0005g0108 a0001c0001t0061g0047 a0001c0001t0064g0046 others(4): Show |
7 | 462 | 0.0152 | 18 | c.-10 others(33): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20770579 | G | GACACACA others(11): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 412 | 0.0024 | 18 | c.-35 others(29): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 3533 | chr22 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101136454 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0011g0055 |
3 | 436 | 0.0069 | 18 | c.108 others(35): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101136456 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02027.hp1 HG02056.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0029 others(18): Show |
25 | 436 | 0.0573 | 18 | c.108 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18975.hp1 NA18983.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0005 a0001c0002t0001g0158 a0001c0002t0001g0161 others(1): Show |
5 | 374 | 0.0134 | 18 | c.-22 others(35): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224005065 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 374 | 0.0027 | 18 | c.-22 others(35): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167759400 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0194 others(1): Show |
4 | 232 | 0.0172 | 18 | c.-19 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772864 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 232 | 0.0043 | 18 | c.-18 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772864 | C | CTCTATAT others(11): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0180 |
2 | 232 | 0.0086 | 18 | c.-18 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772864 | C | CTCTCTAT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02257.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0129 others(1): Show |
4 | 232 | 0.0172 | 18 | c.-18 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18945.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0058 a0003c0003t0001g0182 |
2 | 232 | 0.0086 | 18 | c.-18 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02523.hp2 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 others(2): Show |
5 | 232 | 0.0216 | 18 | c.-18 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02735.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0199 |
3 | 232 | 0.0129 | 18 | c.-18 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167772893 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 232 | 0.0043 | 18 | c.-18 others(37): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167793838 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 232 | 0.0043 | 18 | c.677 others(33): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167829343 | C | CTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 232 | 0.0043 | 18 | c.*40 others(29): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 3775 | chr3 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167829345 | C | CTATGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02109.hp1 HG02647.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0079 others(8): Show |
11 | 232 | 0.0474 | 18 | c.*40 others(29): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 3777 | chr3 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167829345 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0083 others(4): Show |
7 | 232 | 0.0302 | 18 | c.*40 others(29): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 3777 | chr3 | TogoVar | |||||||
SERTAD1_chr19_40416589_40430992 | 40419253 | A | AGAGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0010 | 1 | 368 | 0.0027 | 18 | c.*35 others(29): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 2335 | chr19 | TogoVar | |||||||
SERTAD1_chr19_40416589_40430992 | 40419253 | A | AGAGAGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0024 | a0001c0003t0003g0005 a0001c0003t0024g0042 |
2 | 368 | 0.0054 | 18 | c.*35 others(29): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 2335 | chr19 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40448608 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 378 | 0.0027 | 18 | c.-44 others(29): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4274 | chr19 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40448608 | A | ATAACAAC others(11): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 378 | 0.0027 | 18 | c.-44 others(29): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 4274 | chr19 | TogoVar | |||||||
SERTAD4_chr1_210227796_210251255 | 210241075 | T | TCATGGTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0022 others(90): Show |
293 | 420 | 0.6976 | 18 | c.292 others(33): Show |
SERTAD4 | ENSG00000082497.12 | transcript | ENST00000367012.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERTM1_chr13_36669020_36702839 | 36678679 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0057 | a0001c0001t0028g0136 a0001c0001t0028g0137 a0001c0001t0057g0087 |
3 | 438 | 0.0069 | 18 | c.-17 others(37): Show |
SERTM1 | ENSG00000180440.4 | transcript | ENST00000315190.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 109059096 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 others(1): Show |
4 | 184 | 0.0217 | 18 | c.279 others(37): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95171676 | G | GAAAAATG others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0094 | 1 | 392 | 0.0026 | 18 | c.*15 others(29): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 10/10 | 1578 | chr11 | TogoVar | ||||||
SESN3_chr11_95160513_95236202 | 95185286 | C | CTCTATGT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0056 | a0002c0004t0056g0156 | 1 | 392 | 0.0026 | 18 | c.714 others(25): Show |
p.Ile others(31): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 5/10 | 1073/9563 | 731/1479 | 244/492 | chr11 | TogoVar | |||
SESN3_chr11_95160513_95236202 | 95186194 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01123.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0042 others(13): Show |
17 | 392 | 0.0434 | 18 | c.526 others(33): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179229749 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18982.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0005g0127 |
3 | 274 | 0.0110 | 18 | c.-26 others(37): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179229783 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02071.hp2 HG03516.hp1 others(5): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0002a0001c0002t0007a0001c0002t0034others(2): Show | a0001c0002t0002g0143 a0001c0002t0007g0094 a0001c0002t0007g0095 others(5): Show |
8 | 274 | 0.0292 | 18 | c.-26 others(37): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44677067 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03139.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0010t0007 | a0001c0001t0001g0034 a0001c0001t0010g0035 a0001c0010t0007g0058 |
3 | 140 | 0.0214 | 18 | c.-41 others(29): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3820 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44679937 | G | GATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02040.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0005t0001others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0009g0027 others(7): Show |
10 | 140 | 0.0714 | 18 | c.-12 others(29): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 950 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44703348 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 | 1 | 140 | 0.0071 | 18 | c.486 others(35): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44727186 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 140 | 0.0071 | 18 | c.486 others(37): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44773838 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01074.hp2 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0002g0010 others(7): Show |
10 | 140 | 0.0714 | 18 | c.486 others(37): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44787860 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0032 others(19): Show |
22 | 140 | 0.1571 | 18 | c.487 others(37): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47036905 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp1 NA18906.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0270 a0001c0006t0001g0271 a0001c0006t0001g0272 |
3 | 308 | 0.0097 | 18 | c.735 others(35): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47044344 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 308 | 0.0033 | 18 | c.709 others(37): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47049345 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 308 | 0.0033 | 18 | c.696 others(37): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99403453 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 290 | 0.0035 | 18 | c.117 others(35): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99403455 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18951.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0181 |
3 | 290 | 0.0103 | 18 | c.117 others(35): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99423588 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0068 |
2 | 290 | 0.0069 | 18 | c.676 others(35): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9425051 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0178 | 1 | 240 | 0.0042 | 18 | c.-11 others(35): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9437522 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0020others(2): Show | a0001c0001t0006g0114 a0001c0001t0006g0119 a0001c0001t0006g0164 others(6): Show |
9 | 240 | 0.0375 | 18 | c.567 others(35): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9445962 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014 | a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0214 others(7): Show |
10 | 240 | 0.0417 | 18 | c.152 others(35): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9445974 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0223 | 1 | 240 | 0.0042 | 18 | c.152 others(35): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58513168 | A | ATGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0044 | 1 | 426 | 0.0024 | 18 | c.-23 others(29): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 2348 | chr16 | TogoVar |