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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(114): Show |
120 | 186 | 0.6452 | 10 | c.100 others(27): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0235 |
2 | 19 | 0.1053 | 10 | c.337 others(27): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152829057 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 211 | 0.0047 | 10 | c.951 others(27): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152829057 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01952.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0006a0002c0006t0001 | a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 others(11): Show |
14 | 224 | 0.0625 | 10 | c.951 others(27): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150248659 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 208 | 0.0048 | 10 | c.*38 others(25): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150250202 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0201 a0002c0002t0001g0014 a0002c0002t0001g0040 |
3 | 223 | 0.0135 | 10 | c.565 others(27): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150259291 | A | AAGAAAGA others(3): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 274 | 0.0036 | 10 | c.565 others(29): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150280798 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02040.hp1 HG02155.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0009 a0002c0002t0001g0044 a0002c0002t0001g0222 others(6): Show |
9 | 220 | 0.0409 | 10 | c.564 others(27): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150280818 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0001 | a0002c0002t0001g0267 a0008c0011t0001g0132 |
2 | 276 | 0.0072 | 10 | c.564 others(27): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38753873 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0123 | 1 | 190 | 0.0053 | 10 | c.776 others(27): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38776911 | T | TTGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 a0002c0003t0001g0076 |
2 | 296 | 0.0068 | 10 | c.*50 others(21): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4392 | chr20 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198806 | A | AAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 222 | 0.0090 | 10 | c.-20 others(21): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2008 | chr12 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770349 | T | TAATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 416 | 0.0024 | 10 | c.-83 others(19): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 789 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770629 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02155.hp1 HG02293.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0002c0002t0001g0004 others(4): Show |
22 | 395 | 0.0557 | 10 | c.-11 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1069 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770656 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01981.hp2 HG02132.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0038 a0002c0002t0001g0004 a0002c0002t0001g0008 others(3): Show |
25 | 407 | 0.0614 | 10 | c.-11 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1096 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770683 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01981.hp2 HG02132.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0038 a0002c0002t0001g0004 a0002c0002t0001g0008 others(3): Show |
21 | 399 | 0.0526 | 10 | c.-11 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1123 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770710 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01981.hp2 HG02132.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0038 a0002c0002t0001g0004 a0002c0002t0003g0031 others(2): Show |
18 | 413 | 0.0436 | 10 | c.-11 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1150 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770737 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02896.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0038 a0002c0002t0001g0004 a0002c0002t0003g0031 others(2): Show |
13 | 409 | 0.0318 | 10 | c.-12 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1177 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770764 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0038 a0002c0004t0001g0012 a0002c0004t0001g0032 |
4 | 413 | 0.0097 | 10 | c.-12 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1204 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770791 | C | CATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02965.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0038 a0002c0004t0001g0012 a0002c0004t0001g0032 |
3 | 413 | 0.0073 | 10 | c.-12 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1231 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770822 | A | AATATAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02965.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0038 a0002c0004t0001g0012 a0002c0004t0001g0032 |
3 | 110 | 0.0273 | 10 | c.-13 others(21): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1262 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19074.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0016 a0001c0001t0014g0088 |
3 | 27 | 0.1111 | 10 | c.139 others(27): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0024a0002c0003t0006a0002c0003t0026others(3): Show | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(3): Show |
6 | 78 | 0.0769 | 10 | c.544 others(25): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | A | AAAAATAA others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0017 | a0002c0003t0009g0036 a0002c0003t0017g0215 |
2 | 51 | 0.0392 | 10 | c.305 others(27): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0022others(10): Show | a0001c0001t0001g0148 a0001c0001t0001g0194 a0001c0001t0012g0192 others(16): Show |
20 | 39 | 0.5128 | 10 | c.74- others(25): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | T | TACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG02647.hp2 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0002c0003t0002others(2): Show | a0001c0001t0001g0175 a0001c0002t0004g0138 a0002c0003t0002g0010 others(2): Show |
5 | 47 | 0.1064 | 10 | c.-94 others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157731911 | G | GCACAATA others(3): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0122 | 1 | 172 | 0.0058 | 10 | c.*56 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4534 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157755523 | A | AATACCAT others(3): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 61 | 0.0164 | 10 | c.126 others(29): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | G | GAAGGAAA others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 26 | 0.0385 | 10 | c.-18 others(29): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826864 | G | GGGAAAGG others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0011a0001c0003t0001a0001c0003t0019others(2): Show | a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0023 others(3): Show |
6 | 122 | 0.0492 | 10 | c.-18 others(29): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855308 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0166 | 1 | 66 | 0.0152 | 10 | c.-18 others(31): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02055.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0002g0118 others(3): Show |
6 | 29 | 0.2069 | 10 | c.-18 others(31): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157875868 | C | CGCGGCGC others(3): Show |
5_prime_UTR_variant | MODIFIER | NA18956.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0011 a0001c0001t0012g0012 |
2 | 172 | 0.0116 | 10 | c.-26 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76376 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00741.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0034 others(6): Show |
9 | 67 | 0.1343 | 10 | c.-15 others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147881602 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 259 | 0.0039 | 10 | c.56- others(27): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147890341 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG02129.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0229 a0001c0001t0002g0149 others(10): Show |
13 | 38 | 0.3421 | 10 | c.56- others(25): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | T | TACACACA others(3): Show |
3_prime_UTR_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0005 | 1 | 136 | 0.0074 | 10 | c.*94 others(21): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9473 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVRL1_chr12_51902504_51928361 | 51914716 | T | TTTTAATT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0094 others(14): Show |
28 | 184 | 0.1522 | 10 | c.772 others(25): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51919363 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 a0001c0001t0014g0124 |
2 | 152 | 0.0132 | 10 | c.137 others(27): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51993865 | T | TGGCCTTG others(3): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | 10 | c.*47 others(21): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4669 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67649523 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0060 a0002c0002t0010g0059 |
2 | 394 | 0.0051 | 10 | c.-95 others(27): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67649533 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(17): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0006 a0002c0002t0001g0135 a0002c0002t0001g0136 others(8): Show |
20 | 393 | 0.0509 | 10 | c.-95 others(27): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01256.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0003 | a0001c0001t0004g0165 a0001c0002t0002g0025 a0001c0002t0002g0041 others(2): Show |
5 | 61 | 0.0820 | 10 | c.-37 others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53973855 | A | ATATGTGT others(3): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 72 | 0.0139 | 10 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53973855 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 72 | 0.0139 | 10 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0002 | 1 | 51 | 0.0196 | 10 | c.62+ others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0078 a0001c0002t0003g0084 |
2 | 52 | 0.0385 | 10 | c.62+ others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54035009 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 85 | 0.0118 | 10 | c.63- others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54038673 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 44 | 0.0227 | 10 | c.63- others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54039819 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02257.hp2 HG02293.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 37 | 0.1351 | 10 | c.63- others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |