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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(6): Show | 9 | 284 | 0.0317 | 10 | c.195 others(27): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689338 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0054 | 1 | 344 | 0.0029 | 10 | c.126 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18991.hp2 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0007 | a0001c0001t0003g0234a0001c0002t0002g0218a0001c0002t0007g0323 | 3 | 344 | 0.0087 | 10 | c.127 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0005a0001c0006t0002 | a0001c0003t0005g0047a0001c0003t0005g0048a0001c0003t0005g0050others(2): Show | 5 | 344 | 0.0145 | 10 | c.127 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709255 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03710.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0003a0001c0016t0003 | a0001c0001t0003g0104a0001c0016t0003g0108 | 2 | 344 | 0.0058 | 10 | c.127 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709255 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01516.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0018a0001c0001t0004g0178a0001c0001t0004g0200others(5): Show | 8 | 344 | 0.0233 | 10 | c.127 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01361.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(1): Show | a0001c0001t0001g0103a0001c0001t0015g0116a0001c0001t0019g0252others(1): Show | 4 | 344 | 0.0116 | 10 | c.448 others(25): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758596 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02055.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0004g0075a0001c0001t0004g0200a0001c0001t0005g0151others(17): Show | 20 | 344 | 0.0581 | 10 | c.230 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 314 | 0.0032 | 10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19083.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0254a0001c0002t0001g0270 | 2 | 314 | 0.0064 | 10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(109): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0170a0001c0001t0002g0296a0001c0001t0004g0271others(107): Show | 112 | 314 | 0.3567 | 10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673456 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0153a0001c0001t0002g0154others(1): Show | 4 | 314 | 0.0127 | 10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673466 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274a0001c0002t0001g0275 | 2 | 314 | 0.0064 | 10 | c.162 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38679568 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0019 | a0001c0001t0017a0001c0002t0001a0001c0002t0012others(4): Show | a0001c0001t0017g0284a0001c0002t0001g0005a0001c0002t0001g0006others(36): Show | 40 | 314 | 0.1274 | 10 | c.163 others(29): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38728448 | T | TCCTCCTC others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 314 | 0.0032 | 10 | c.241 others(27): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38735687 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0007others(4): Show | a0001c0001t0021g0196a0001c0002t0001g0048a0001c0002t0001g0049others(12): Show | 15 | 314 | 0.0478 | 10 | c.*62 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4099 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735707 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0176 | 1 | 314 | 0.0032 | 10 | c.*62 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4119 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735727 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0043a0001c0003t0003a0001c0003t0009others(1): Show | a0001c0001t0043g0295a0001c0003t0003g0089a0001c0003t0003g0090others(6): Show | 9 | 314 | 0.0287 | 10 | c.*62 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4139 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735732 | C | CGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0176 | 1 | 314 | 0.0032 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4144 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735747 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 NA18981.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0051a0001c0004t0005 | a0001c0003t0009g0182a0001c0003t0051g0189a0001c0004t0005g0231 | 3 | 314 | 0.0096 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4159 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735792 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0198 | 1 | 314 | 0.0032 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4204 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735803 | G | GGTGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0041a0001c0002t0001g0048others(3): Show | 6 | 314 | 0.0191 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4215 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735817 | G | GCGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0299 | 1 | 314 | 0.0032 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4229 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735817 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 314 | 0.0032 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4229 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735830 | G | GGCGGGGC others(3): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 314 | 0.0032 | 10 | c.*63 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4242 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735837 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0217 | 1 | 314 | 0.0032 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4249 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735842 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0201 | 1 | 314 | 0.0032 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4254 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735847 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0013a0001c0004t0048 | a0001c0004t0005g0227a0001c0004t0005g0233a0001c0004t0005g0240others(3): Show | 6 | 314 | 0.0191 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4259 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735848 | G | GGGGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01099.hp1 others(12): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0006t0046others(1): Show | a0001c0004t0005g0095a0001c0004t0005g0222a0001c0004t0005g0225others(12): Show | 15 | 314 | 0.0478 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4260 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735868 | C | CGGGCGGG others(3): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 NA18990.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145a0001c0001t0002g0150a0001c0001t0002g0174 | 3 | 314 | 0.0096 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4280 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735877 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02300.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0003 | a0001c0001t0010g0211a0001c0003t0003g0088a0001c0003t0003g0089 | 3 | 314 | 0.0096 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4289 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735878 | G | GGGGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 NA20905.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0245a0001c0004t0005g0246 | 2 | 314 | 0.0064 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4290 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735882 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 NA18994.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161a0001c0001t0002g0162a0001c0001t0002g0163 | 3 | 314 | 0.0096 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4294 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735883 | G | GGGGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0030 | a0001c0001t0026g0287a0001c0001t0030g0294 | 2 | 314 | 0.0064 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4295 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735883 | G | GGTGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA18955.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0040 | a0001c0001t0006g0249a0001c0002t0040g0203 | 2 | 314 | 0.0064 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4295 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735888 | G | GGGGGTTC others(3): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 NA20905.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0245a0001c0004t0005g0246 | 2 | 314 | 0.0064 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4300 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735907 | G | GCGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 314 | 0.0032 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4319 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735917 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0003t0003a0001c0004t0005others(2): Show | a0001c0001t0004g0273a0001c0003t0003g0191a0001c0003t0003g0213others(6): Show | 9 | 314 | 0.0287 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4329 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735930 | G | GGCGGGGC others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0009others(3): Show | a0001c0002t0001g0073a0001c0003t0003g0090a0001c0003t0003g0094others(4): Show | 7 | 314 | 0.0223 | 10 | c.*64 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4342 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735955 | G | GGCGGGGC others(3): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0195 | 1 | 314 | 0.0032 | 10 | c.*65 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4367 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GGGGGCAG others(3): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG04115.hp1 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0048 | a0001c0004t0005g0222a0001c0004t0048g0223 | 2 | 314 | 0.0064 | 10 | c.*65 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GGGGGCGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01358.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0016g0302a0001c0002t0001g0024a0001c0002t0001g0042others(11): Show | 14 | 314 | 0.0446 | 10 | c.*65 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735972 | C | CGGGGGTT others(3): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp1 HG02132.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0004g0255a0001c0001t0004g0256a0001c0001t0004g0257others(20): Show | 23 | 314 | 0.0733 | 10 | c.*65 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4384 | chr19 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58227327 | T | TTGACACC others(3): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 322 | 0.0031 | 10 | c.789 others(27): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR10_chr14_58195149_58240636 | 58228681 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0259 | 1 | 322 | 0.0031 | 10 | c.789 others(27): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR1B_chr2_97650939_97669044 | 97665737 | C | CTCTATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 398 | 0.0025 | 10 | c.-18 others(21): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1694 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 326 | 0.0031 | 10 | c.101 others(27): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR2_chr2_65222831_65276253 | 65274989 | T | TCAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0266 | 1 | 326 | 0.0031 | 10 | c.*62 others(21): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3737 | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152778943 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 310 | 0.0032 | 10 | c.45- others(25): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152785481 | G | GAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(115): Show | 120 | 310 | 0.3871 | 10 | c.100 others(27): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |