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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCT | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(46): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0002g0001 others(1): Show |
49 | 131 | 0.3740 | -6 | c.-14 others(17): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88937203 | TTCAGTC | T | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show |
7 | 400 | 0.0175 | -6 | c.990 others(21): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88937214 | ACACTCT | A | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show |
7 | 400 | 0.0175 | -6 | c.990 others(21): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5535096 | TAAAAGA | T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
3 | 368 | 0.0082 | -6 | c.-45 others(17): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 4496 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34791307 | TCACACA | T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0003g0082 others(2): Show |
6 | 114 | 0.0526 | -6 | c.809 others(19): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505794 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(179): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(27): Show |
182 | 243 | 0.7490 | -6 | c.*48 others(17): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4176 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901532 | ATGTGTG | A | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp1 NA18977.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0002g0224 a0001c0001t0004g0027 a0001c0002t0002g0274 others(4): Show |
7 | 291 | 0.0241 | -6 | c.126 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904775 | GTGTATA | G | intron_variant | MODIFIER | HG01243.hp2 HG03041.hp2 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0004g0286 |
3 | 385 | 0.0078 | -6 | c.255 others(23): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73920533 | TTCCTCC | T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG01891.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0006g0249 a0001c0001t0008g0042 a0001c0001t0008g0070 others(18): Show |
23 | 342 | 0.0673 | -6 | c.*95 others(15): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 669 | chr2 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0048 others(10): Show |
16 | 53 | 0.3019 | -6 | c.369 others(23): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | CATAATA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show |
141 | 219 | 0.6438 | -6 | c.369 others(21): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL7A_chr9_108857266_108868756 | 108858829 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02647.hp2 NA18970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0000 a0001c0010t0001g0000 |
5 | 480 | 0.0104 | -6 | c.-34 others(17): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3436 | chr9 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108858829 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02647.hp2 NA18970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000 a0001c0003t0001g0000 |
5 | 468 | 0.0107 | -6 | c.-29 others(17): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2844 | chr9 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTT | A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0098 a0001c0001t0001g0322 others(10): Show |
13 | 60 | 0.2167 | -6 | c.-25 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17802424 | CGTGTGT | C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0356 others(11): Show |
14 | 227 | 0.0617 | -6 | c.-24 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694853 | AAGAGAG | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG02615.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0000 a0006c0008t0001g0000 |
8 | 59 | 0.1356 | -6 | c.*25 others(17): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATATAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00621.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 others(24): Show |
27 | 175 | 0.1543 | -6 | c.126 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACACA | G | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01081.hp2 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0003g0105 others(16): Show |
19 | 38 | 0.5000 | -6 | c.126 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236705301 | GAAAGAC | G | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0009g0119 |
3 | 342 | 0.0088 | -6 | c.127 others(25): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTATATA | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01071.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(19): Show |
22 | 213 | 0.1033 | -6 | c.127 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236761432 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(109): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0018others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(108): Show |
112 | 184 | 0.6087 | -6 | c.252 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66552880 | TCACACA | T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp2 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0030a0004c0005others(2): Show | a0001c0001t0001a0002c0030t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0065 others(20): Show |
39 | 265 | 0.1472 | -6 | c.383 others(23): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673511 | ATATATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(75): Show |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(6): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(75): Show |
78 | 312 | 0.2500 | -6 | c.162 others(25): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38697106 | AAGCCAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(4): Show | a0001c0002t0001g0041 a0001c0004t0001g0229 a0001c0004t0001g0234 others(22): Show |
25 | 312 | 0.0801 | -6 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58228681 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0014 | a0001c0001t0003g0023 a0001c0001t0003g0143 a0001c0001t0003g0144 others(7): Show |
11 | 64 | 0.1719 | -6 | c.789 others(23): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102495755 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00733.hp1 others(104): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 others(77): Show |
107 | 204 | 0.5245 | -6 | c.49- others(21): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665692 | ACTCTCT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(3): Show |
17 | 340 | 0.0500 | -6 | c.-18 others(17): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1649 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665733 | CTCTCTA | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02886.hp1 HG02922.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0002c0003t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0007g0012 others(1): Show |
10 | 370 | 0.0270 | -6 | c.-18 others(17): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1690 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665735 | CTCTATA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01361.hp2 HG01928.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0047 others(4): Show |
17 | 351 | 0.0484 | -6 | c.-18 others(17): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1692 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665737 | CTATATA | C | upstream_gene_variant | MODIFIER | HG01515.hp1 HG02647.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0004a0002c0003t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0004g0003 others(1): Show |
9 | 299 | 0.0301 | -6 | c.-18 others(17): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1694 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65242332 | GTTATAA | G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0244 a0001c0001t0002g0245 |
4 | 323 | 0.0124 | -6 | c.159 others(23): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65249019 | AAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 a0001c0001t0006g0217 a0001c0001t0006g0243 others(7): Show |
11 | 324 | 0.0340 | -6 | c.376 others(23): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789023 | AAACAAC | A | intron_variant | MODIFIER | HG02630.hp2 HG03490.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0300 a0001c0001t0002g0002 a0001c0001t0002g0159 others(2): Show |
6 | 178 | 0.0337 | -6 | c.100 others(23): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150316483 | ATTTTTT | A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG02922.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 others(3): Show |
6 | 104 | 0.0577 | -6 | c.-52 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113897515 | GTTATTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(46): Show |
52 | 265 | 0.1962 | -6 | c.44+ others(21): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100197317 | ATGTTTG | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(8): Show |
17 | 240 | 0.0708 | -6 | c.-35 others(17): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 3497 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198756 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01928.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(7): Show |
15 | 90 | 0.1667 | -6 | c.-20 others(17): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2058 | chr12 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770530 | CATAAAT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 9 | 415 | 0.0217 | -6 | c.-10 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 970 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0006 others(1): Show |
16 | 161 | 0.0994 | -6 | c.-28 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 others(26): Show |
32 | 56 | 0.5714 | -6 | c.139 others(23): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157588236 | TACACAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02486.hp2 others(16): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(6): Show | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show |
19 | 99 | 0.1919 | -6 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | CATATAT | C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA20300.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0009 | a0002c0003t0002g0022 a0002c0003t0002g0034 a0002c0003t0002g0035 others(1): Show |
4 | 23 | 0.1739 | -6 | c.74- others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01891.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0014a0001c0002t0016others(3): Show | a0001c0002t0001g0117 a0001c0002t0014g0049 a0001c0002t0016g0037 others(4): Show |
7 | 49 | 0.1429 | -6 | c.-94 others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757039 | TATATAA | T | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | 172 | 0.0174 | -6 | c.126 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157795377 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 others(16): Show |
19 | 36 | 0.5278 | -6 | c.67+ others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157811803 | CAACAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(19): Show |
22 | 172 | 0.1279 | -6 | c.-8+ others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826796 | GGGAAAA | G | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0002t0015a0001c0002t0020others(4): Show | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | 172 | 0.1105 | -6 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0057 a0001c0001t0002g0128 a0001c0002t0001g0089 others(4): Show |
7 | 90 | 0.0778 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855323 | TACACAC | T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0003t0005others(1): Show | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(3): Show |
6 | 106 | 0.0566 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | TACACAC | T | intron_variant | MODIFIER | HG02897.hp1 HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015 | a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0015g0095 |
3 | 26 | 0.1154 | -6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar |