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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM5_chr16_20404534_20446336 | 20431948 | A | AAATAAT | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02818.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0035a0008c0010 | a0001c0001t0013a0001c0035t0010a0008c0010t0007 | a0001c0001t0013g0261 a0001c0035t0010g0252 a0008c0010t0007g0270 others(3): Show |
6 | 369 | 0.0163 | 6 | c.130 others(23): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(19): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0008others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0052 others(16): Show |
22 | 139 | 0.1583 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20433840 | A | ATTTTTT | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp1 HG02129.hp1 others(10): Show |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0003a0006c0005t0003 | a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 others(10): Show |
13 | 183 | 0.0710 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20436025 | T | TTCTTTC | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02809.hp1 others(2): Show |
a0006a0011 | a0006c0005a0011c0013 | a0006c0005t0012a0011c0013t0008 | a0006c0005t0012g0047 a0011c0013t0008g0017 |
5 | 432 | 0.0116 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20444428 | A | AATAAAG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(268): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(215): Show |
271 | 432 | 0.6273 | 6 | c.*40 others(17): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3093 | chr16 | TogoVar | |||||||
ACSM6_chr10_95189238_95233929 | 95200558 | A | AGAAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0052 a0002c0002t0001g0005 others(78): Show |
108 | 310 | 0.3484 | 6 | c.193 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95200597 | A | AAGAAGG | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 311 | 0.0096 | 6 | c.193 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95208933 | T | TAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01109.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0176 a0002c0002t0001g0177 others(10): Show |
18 | 28 | 0.6429 | 6 | c.611 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(67): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0003a0001c0013others(4): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0022 others(65): Show |
70 | 96 | 0.7292 | 6 | c.178 others(23): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899420 | T | TTCTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(44): Show |
47 | 300 | 0.1567 | 6 | c.375 others(25): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81073680 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 others(54): Show |
57 | 239 | 0.2385 | 6 | c.-44 others(17): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4398 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81094180 | C | CTGTGTG | intron_variant | MODIFIER | HG01074.hp2 HG02970.hp2 HG06807.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0004a0002c0003t0005a0002c0004t0001others(4): Show | a0001c0001t0004g0232 a0002c0003t0005g0271 a0002c0003t0005g0272 others(17): Show |
20 | 255 | 0.0784 | 6 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 others(54): Show |
57 | 215 | 0.2651 | 6 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107503 | A | AATATAT | intron_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0003g0263 a0001c0001t0003g0265 others(1): Show |
4 | 240 | 0.0167 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACAT | intron_variant | MODIFIER | HG03704.hp1 HG03710.hp2 NA18981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0003g0219 others(1): Show |
4 | 84 | 0.0476 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CATATAT | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0091 others(3): Show |
6 | 86 | 0.0698 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81121915 | A | ATATTAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG02559.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0005t0005others(8): Show | a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 others(24): Show |
27 | 180 | 0.1500 | 6 | c.456 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81137321 | T | TCACACA | intron_variant | MODIFIER | HG02451.hp1 NA18949.hp2 NA18955.hp1 others(4): Show |
a0001a0002a0003 | a0001c0013a0002c0003a0002c0004others(1): Show | a0001c0013t0018a0002c0003t0005a0002c0004t0003others(1): Show | a0001c0013t0018g0290 a0002c0003t0005g0277 a0002c0003t0005g0279 others(4): Show |
7 | 123 | 0.0569 | 6 | c.646 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81147866 | T | TACACAC | intron_variant | MODIFIER | HG02976.hp1 HG03041.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0002a0001c0005t0007 | a0001c0001t0004g0197 a0001c0002t0002g0009 a0001c0005t0007g0003 others(2): Show |
5 | 241 | 0.0207 | 6 | c.922 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01169.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0099 others(24): Show |
27 | 164 | 0.1646 | 6 | c.109 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTTTCTT | intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0074 a0001c0001t0003g0201 a0001c0001t0020g0061 |
3 | 62 | 0.0484 | 6 | c.135 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01257.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(7): Show | a0001c0001t0001g0205 a0001c0001t0003g0261 a0001c0001t0003g0262 others(27): Show |
30 | 137 | 0.2190 | 6 | c.151 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229430777 | A | AAAAAAC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01516.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 |
11 | 445 | 0.0247 | 6 | c.*71 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 467 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229432496 | C | CGGCGGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(42): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0022 others(1): Show |
45 | 446 | 0.1009 | 6 | c.454 others(19): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCTCT | upstream_gene_variant | MODIFIER | HG03831.hp1 HG04228.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 85 | 0.0353 | 6 | c.-14 others(17): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88932032 | G | GATTATT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(8): Show |
19 | 176 | 0.1080 | 6 | c.*31 others(17): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3041 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACACAC | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(5): Show |
11 | 47 | 0.2340 | 6 | c.*60 others(15): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5532355 | C | CGCTACA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0071 others(29): Show |
131 | 368 | 0.3560 | 6 | c.-18 others(17): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 1755 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34791307 | T | TCACACA | intron_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0097 |
12 | 120 | 0.1000 | 6 | c.809 others(19): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0002g0121 a0001c0002t0002g0028 a0001c0002t0002g0081 others(20): Show |
23 | 307 | 0.0749 | 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 | G | GTATATA | intron_variant | MODIFIER | HG00408.hp1 NA18944.hp1 NA18969.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0004g0283 |
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 | 73904777 | G | GTATATA | intron_variant | MODIFIER | HG00544.hp2 HG03139.hp2 HG04228.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0355 a0001c0002t0001g0263 a0001c0002t0002g0012 others(3): Show |
7 | 265 | 0.0264 | 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 | 73913170 | C | CAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0211 others(11): Show |
14 | 194 | 0.0722 | 6 | c.452 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02602.hp1 HG02698.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0005g0014 a0001c0001t0005g0180 a0001c0001t0005g0356 others(5): Show |
8 | 168 | 0.0476 | 6 | c.*50 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACAC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(16): Show |
33 | 78 | 0.4231 | 6 | c.769 others(23): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TATACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(92): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0001a0001c0003t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(38): Show |
95 | 140 | 0.6786 | 6 | c.769 others(23): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | C | CATAATA | intron_variant | MODIFIER | HG02818.hp1 NA18983.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 |
3 | 81 | 0.0370 | 6 | c.369 others(21): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17785085 | C | CATGGTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0046 others(76): Show |
79 | 364 | 0.2170 | 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 | 17789838 | G | GTGTCAT | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0356 others(3): Show |
6 | 364 | 0.0165 | 6 | c.-24 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTGTGTG | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0102 others(7): Show |
10 | 26 | 0.3846 | 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 | A | AAGAGAG | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01517.hp1 HG02559.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(2): Show |
19 | 70 | 0.2714 | 6 | c.*25 others(17): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68933131 | T | TTTATTA | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0205 others(8): Show |
11 | 282 | 0.0390 | 6 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236693177 | G | GCACACA | intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01361.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0203 a0001c0001t0003g0171 a0001c0001t0004g0202 others(4): Show |
7 | 26 | 0.2692 | 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 | 236709220 | G | GTATATA | intron_variant | MODIFIER | HG02132.hp2 HG03130.hp1 HG03490.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0002t0002others(1): Show | a0001c0001t0003g0200 a0001c0001t0010g0046 a0001c0001t0010g0047 others(4): Show |
7 | 198 | 0.0354 | 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 | 236709220 | G | GTGTGTA | intron_variant | MODIFIER | HG02055.hp2 HG02897.hp2 HG03098.hp1 others(1): Show |
a0001a0005 | a0001c0003a0001c0011a0005c0017 | a0001c0003t0002a0001c0011t0004a0001c0011t0005others(1): Show | a0001c0003t0002g0168 a0001c0011t0004g0102 a0001c0011t0005g0101 others(1): Show |
4 | 195 | 0.0205 | 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 | 236709255 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01123.hp1 others(31): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0032 a0001c0001t0001g0250 a0001c0001t0001g0252 others(31): Show |
34 | 219 | 0.1553 | 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 | 236709255 | T | TATATAC | intron_variant | MODIFIER | HG02523.hp1 NA19064.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0234 a0001c0001t0001g0261 |
3 | 188 | 0.0160 | 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 | 236709257 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(19): Show |
a0001a0004 | a0001c0003a0001c0006a0001c0018others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(7): Show | a0001c0003t0001g0001 a0001c0003t0002g0053 a0001c0003t0005g0048 others(18): Show |
22 | 304 | 0.0724 | 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 | 236709344 | G | GTATATA | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0011a0001c0004t0005 | a0001c0001t0005g0056 a0001c0001t0011g0091 a0001c0004t0005g0065 |
3 | 271 | 0.0111 | 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 | 236709358 | A | ATATACG | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02895.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0015a0001c0015t0016 | a0001c0001t0015g0117 a0001c0015t0016g0114 a0001c0015t0016g0116 |
3 | 342 | 0.0088 | 6 | c.127 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar |