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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL8_chr1_17750333_17832063 | 17816200 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(77): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | 366 | 0.2186 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17817189 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp2 others(73): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0116others(73): Show | 76 | 366 | 0.2077 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17817705 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(19): Show | a0001c0001t0001g0051a0001c0001t0001g0156a0001c0001t0005g0327others(191): Show | 196 | 366 | 0.5355 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17820006 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0343a0001c0001t0001g0344a0001c0005t0001g0325others(3): Show | 6 | 366 | 0.0164 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17820429 | A | AG | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(3): Show | a0001c0001t0001g0349a0001c0001t0005g0327a0001c0005t0001g0040others(14): Show | 17 | 366 | 0.0465 | 1 | c.-24 others(18): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17821632 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(16): Show | a0001c0001t0001g0051a0001c0001t0001g0156a0001c0003t0001g0012others(187): Show | 192 | 366 | 0.5246 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17822256 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(16): Show | a0001c0001t0001g0051a0001c0001t0001g0156a0001c0003t0001g0012others(187): Show | 192 | 366 | 0.5246 | 1 | c.-24 others(16): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8693016 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(16): Show | 355 | 356 | 0.9972 | 1 | c.*44 others(12): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4383 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8696727 | T | TG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000others(4): Show | 73 | 356 | 0.2051 | 1 | c.*72 others(10): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 672 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8696752 | A | AG | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(5): Show | 79 | 356 | 0.2219 | 1 | c.*69 others(10): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 647 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8702096 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0007a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(9): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0007t0001g0000others(9): Show | 237 | 356 | 0.6657 | 1 | c.-33 others(12): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 3302 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40736513 | G | GT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0008a0001c0003t0003others(4): Show | a0001c0001t0005g0115a0001c0001t0008g0044a0001c0003t0003g0003others(14): Show | 62 | 426 | 0.1455 | 1 | c.*59 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4347 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40736829 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(115): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0037others(18): Show | a0001c0001t0001g0103a0001c0001t0005g0005a0001c0001t0005g0040others(41): Show | 118 | 426 | 0.2770 | 1 | c.*56 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4031 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40737992 | G | GA | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02027.hp1 others(10): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0005g0040a0001c0003t0003g0003others(9): Show | 13 | 426 | 0.0305 | 1 | c.*44 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2868 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40742255 | C | CA | 3_prime_UTR_variant | MODIFIER | HG04228.hp2 NA18980.hp2 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0029a0002c0002t0041 | a0001c0001t0026g0091a0001c0001t0026g0102a0002c0002t0029g0141others(2): Show | 5 | 426 | 0.0117 | 1 | c.*17 others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 6/6 | 177 | chr19 | TogoVar | |||||
ACTMAP_chr19_40735861_40755477 | 40744788 | T | TC | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0001g0098a0001c0001t0006g0041a0001c0001t0006g0042others(5): Show | 11 | 426 | 0.0258 | 1 | c.393 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40746405 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(12): Show | a0001c0001t0001g0087a0001c0001t0004g0081a0001c0001t0013g0146others(25): Show | 76 | 426 | 0.1784 | 1 | c.324 others(9): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40748984 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01167.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0083others(12): Show | 23 | 426 | 0.0540 | 1 | c.323 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40749404 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0034a0001c0001t0001g0078a0001c0001t0001g0079others(36): Show | 97 | 426 | 0.2277 | 1 | c.323 others(7): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40752579 | C | CA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp1 others(11): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0027a0002c0002t0002a0002c0002t0006others(5): Show | a0001c0001t0027g0037a0002c0002t0002g0002a0002c0002t0002g0130others(7): Show | 14 | 426 | 0.0329 | 1 | c.-27 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40753348 | C | CA | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0017 | a0001c0001t0001g0001a0001c0001t0002g0038a0001c0004t0017g0023 | 6 | 426 | 0.0141 | 1 | c.-35 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2872 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40754100 | G | GT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0089a0001c0001t0001g0096others(24): Show | 43 | 426 | 0.1009 | 1 | c.-42 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3624 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0022others(29): Show | 51 | 426 | 0.1197 | 1 | c.-54 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68870477 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0138a0001c0001t0001g0186a0001c0001t0001g0195others(100): Show | 105 | 284 | 0.3697 | 1 | c.*43 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3650 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68873838 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(101): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0216a0001c0001t0001g0219a0001c0001t0001g0224others(100): Show | 104 | 284 | 0.3662 | 1 | c.*10 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 289 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68879195 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(110): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0141a0001c0001t0001g0147a0001c0001t0001g0152others(109): Show | 113 | 284 | 0.3979 | 1 | c.228 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 18/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68881954 | T | TG | intron_variant | MODIFIER | HG02083.hp2 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0205a0001c0001t0001g0207a0001c0001t0001g0281others(1): Show | 4 | 284 | 0.0141 | 1 | c.195 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68883473 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0151a0001c0001t0001g0227a0001c0001t0001g0228others(11): Show | 14 | 284 | 0.0493 | 1 | c.163 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 14/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68886969 | A | AT | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA18948.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0026a0001c0001t0002g0033a0001c0001t0002g0036others(5): Show | 8 | 284 | 0.0282 | 1 | c.123 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68889538 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA20129.hp2 |
a0001a0003 | a0001c0004a0003c0007 | a0001c0004t0001a0003c0007t0001 | a0001c0004t0001g0145a0001c0004t0001g0252a0003c0007t0001g0250 | 3 | 284 | 0.0106 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68889783 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0147others(13): Show | 16 | 284 | 0.0563 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68893642 | C | CA | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03579.hp2 others(1): Show |
a0001a0005 | a0001c0003a0001c0018a0001c0019others(1): Show | a0001c0003t0007a0001c0018t0001a0001c0019t0001others(1): Show | a0001c0003t0007g0104a0001c0018t0001g0259a0001c0019t0001g0260others(1): Show | 4 | 284 | 0.0141 | 1 | c.855 others(14): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68901217 | G | GT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0161a0001c0001t0001g0185a0001c0001t0001g0230others(15): Show | 18 | 284 | 0.0634 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68901249 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(13): Show | a0001c0001t0001g0139a0001c0001t0001g0152a0001c0001t0001g0167others(76): Show | 79 | 284 | 0.2782 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68903536 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(65): Show | 70 | 284 | 0.2465 | 1 | c.677 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68905982 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp1 others(59): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(58): Show | 62 | 284 | 0.2183 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68906986 | A | AG | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0147others(38): Show | 41 | 284 | 0.1444 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68907257 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0001g0226others(11): Show | 15 | 284 | 0.0528 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68907259 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(56): Show | 59 | 284 | 0.2078 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68908010 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0205a0001c0001t0001g0226a0001c0001t0001g0239others(7): Show | 10 | 284 | 0.0352 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68918520 | A | AG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(278): Show | 283 | 284 | 0.9965 | 1 | c.340 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68918731 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(105): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(105): Show | 108 | 284 | 0.3803 | 1 | c.340 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68925318 | C | CT | intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0164a0001c0001t0001g0237a0001c0001t0001g0245others(9): Show | 12 | 284 | 0.0423 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68925341 | T | TA | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201a0001c0001t0002g0001 | 3 | 284 | 0.0106 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68929462 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141others(223): Show | 227 | 284 | 0.7993 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68932513 | C | CT | intron_variant | MODIFIER | HG00597.hp1 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0007 | a0001c0001t0001g0166a0001c0001t0001g0201a0001c0001t0002g0001others(2): Show | 6 | 284 | 0.0211 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68932539 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0167a0001c0001t0001g0170a0001c0001t0001g0230others(12): Show | 15 | 284 | 0.0528 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68935387 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp2 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(8): Show | a0001c0001t0001g0151a0001c0001t0001g0182a0001c0001t0001g0186others(53): Show | 56 | 284 | 0.1972 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68938910 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0138a0001c0001t0001g0148a0001c0001t0001g0169others(22): Show | 25 | 284 | 0.0880 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68945163 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(234): Show | 239 | 284 | 0.8416 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar |