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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASXL2_chr2_25728753_25883487 | 25857090 | C | CGGG | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0204 others(31): Show |
34 | 65 | 0.5231 | 3 | c.58- others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25869912 | T | TAAA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0017g0003 others(2): Show |
5 | 149 | 0.0336 | 3 | c.57+ others(18): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33578458 | C | CCCG | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01433.hp2 HG01981.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0081 a0001c0001t0001g0121 a0001c0001t0001g0138 others(9): Show |
12 | 54 | 0.2222 | 3 | c.-13 others(12): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 132 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33586404 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp2 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0166 others(41): Show |
44 | 195 | 0.2256 | 3 | c.54+ others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33588359 | G | GTTT | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG03516.hp1 others(2): Show |
a0001a0004a0016 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0008t0040others(2): Show | a0001c0001t0002g0171 a0001c0001t0006g0157 a0001c0008t0040g0219 others(2): Show |
5 | 154 | 0.0325 | 3 | c.54+ others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33636305 | T | TCAA | intron_variant | MODIFIER | HG01981.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0014a0001c0008t0017a0002c0002t0003others(3): Show | a0001c0001t0014g0179 a0001c0008t0017g0025 a0002c0002t0003g0063 others(3): Show |
6 | 195 | 0.0308 | 3 | c.138 others(20): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713250 | T | TTTG | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01109.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0040 a0001c0001t0001g0160 a0001c0001t0002g0065 others(26): Show |
29 | 218 | 0.1330 | 3 | c.880 others(22): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33736345 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0002g0065 a0001c0001t0002g0122 a0001c0001t0002g0123 others(16): Show |
19 | 211 | 0.0900 | 3 | c.108 others(22): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117387307 | T | TCAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
52 | 141 | 0.3688 | 3 | c.441 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117423689 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02155.hp2 HG02698.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0092 a0002c0002t0002g0094 others(4): Show |
7 | 149 | 0.0470 | 3 | c.206 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117425259 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01361.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 others(21): Show |
24 | 33 | 0.7273 | 3 | c.205 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117426488 | C | CAAA | intron_variant | MODIFIER | HG01433.hp1 HG02074.hp1 HG02486.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 others(12): Show |
15 | 135 | 0.1111 | 3 | c.205 others(18): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87749058 | G | GTTT | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02572.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0059 others(4): Show |
7 | 136 | 0.0515 | 3 | c.*56 others(14): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2453 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87760720 | C | CTGG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(90): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0038 a0001c0001t0002g0114 a0001c0001t0002g0115 others(90): Show |
93 | 358 | 0.2598 | 3 | c.832 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87762916 | A | ATAT | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 others(1): Show |
4 | 243 | 0.0165 | 3 | c.831 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87763078 | C | CTCA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(57): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0002 | a0001c0001t0002g0038 a0001c0001t0002g0115 a0001c0001t0002g0117 others(57): Show |
60 | 330 | 0.1818 | 3 | c.831 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87791030 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG01943.hp1 HG02040.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221 a0001c0001t0002g0011 a0001c0001t0002g0013 others(8): Show |
13 | 152 | 0.0855 | 3 | c.262 others(18): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87795465 | G | GTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(87): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0038 a0001c0001t0002g0114 a0001c0001t0002g0115 others(87): Show |
90 | 173 | 0.5202 | 3 | c.163 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87819263 | C | CAAA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0306 others(7): Show |
10 | 76 | 0.1316 | 3 | c.-11 others(14): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 1038 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02165.hp2 others(1): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0014 | a0001c0001t0002a0001c0006t0001a0010c0014t0002 | a0001c0001t0002g0043 a0001c0006t0001g0168 a0001c0006t0001g0180 others(1): Show |
4 | 178 | 0.0225 | 3 | c.*66 others(14): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23792962 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00733.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0022 others(41): Show |
44 | 107 | 0.4112 | 3 | c.264 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807303 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(216): Show |
219 | 244 | 0.8975 | 3 | c.245 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807820 | A | ATAT | intron_variant | MODIFIER | HG02970.hp1 NA18952.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0067 a0001c0001t0002g0076 |
3 | 230 | 0.0130 | 3 | c.245 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807822 | A | ATAT | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0107 a0002c0003t0001g0139 a0002c0003t0001g0140 |
3 | 153 | 0.0196 | 3 | c.245 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807824 | A | ATAT | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 others(6): Show |
9 | 133 | 0.0677 | 3 | c.245 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807826 | A | ATAT | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001a0002c0003t0003others(1): Show | a0001c0001t0003g0124 a0002c0003t0001g0131 a0002c0003t0003g0132 others(3): Show |
6 | 69 | 0.0870 | 3 | c.245 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23812848 | C | CAAA | intron_variant | MODIFIER | HG03490.hp2 HG03669.hp2 NA19004.hp2 others(2): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0002a0010c0014t0002 | a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0049 others(2): Show |
5 | 35 | 0.1429 | 3 | c.226 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23813309 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(215): Show |
218 | 244 | 0.8934 | 3 | c.226 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23822917 | C | CAAA | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0162 others(9): Show |
12 | 58 | 0.2069 | 3 | c.213 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 16/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23834152 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(4): Show |
7 | 92 | 0.0761 | 3 | c.156 others(18): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23845570 | A | ATTT | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01123.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(1): Show | a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0157 others(14): Show |
17 | 100 | 0.1700 | 3 | c.156 others(24): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23875055 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0003g0007 a0001c0002t0001g0238 a0001c0002t0003g0225 others(19): Show |
22 | 30 | 0.7333 | 3 | c.977 others(18): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 8/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAG | intron_variant | MODIFIER | HG02080.hp1 HG02135.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 others(8): Show |
11 | 200 | 0.0550 | 3 | c.902 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23893667 | C | CTTT | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0108 others(11): Show |
14 | 199 | 0.0704 | 3 | c.368 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23899303 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0003g0224 a0001c0002t0001g0238 a0001c0002t0003g0225 others(18): Show |
21 | 214 | 0.0981 | 3 | c.217 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23903939 | T | TTGG | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01123.hp2 others(1): Show |
a0001 | a0001c0006a0001c0016 | a0001c0006t0001a0001c0016t0001 | a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 others(1): Show |
4 | 219 | 0.0183 | 3 | c.217 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23921205 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01099.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(18): Show |
21 | 49 | 0.4286 | 3 | c.216 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123321987 | C | CTTT | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp2 HG01192.hp1 others(9): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0007 | a0001c0002t0001a0001c0002t0003a0001c0004t0001others(2): Show | a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0003g0004 others(9): Show |
12 | 243 | 0.0494 | 3 | c.413 others(20): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 27/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123333231 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02109.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0166 others(3): Show |
6 | 56 | 0.1071 | 3 | c.347 others(20): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 24/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354837 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG01256.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0210 a0001c0002t0001g0114 a0001c0002t0001g0115 others(3): Show |
6 | 200 | 0.0300 | 3 | c.164 others(22): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123369918 | T | TTCA | disruptive_inframe_insertion | MODERATE | HG01243.hp2 HG01891.hp1 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0182 a0001c0002t0001g0113 a0001c0002t0001g0114 others(12): Show |
15 | 258 | 0.0581 | 3 | c.831 others(10): Show |
p.Asp others(6): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 833/4173 | 278/1390 | chr8 | TogoVar | |||
ATAD2_chr8_123314850_123401447 | 123378701 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG00738.hp2 others(54): Show |
a0001a0009a0010 | a0001c0001a0001c0004a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0118 others(54): Show |
57 | 69 | 0.8261 | 3 | c.320 others(20): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123379870 | G | GTAT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(46): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0174 others(46): Show |
49 | 273 | 0.1795 | 3 | c.320 others(18): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123379887 | A | ATTT | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0181 others(5): Show |
8 | 272 | 0.0294 | 3 | c.320 others(18): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123379890 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(84): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0001g0183 others(84): Show |
87 | 196 | 0.4439 | 3 | c.320 others(18): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1509914 | T | TAAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp2 others(9): Show |
a0001a0007a0008 | a0001c0003a0001c0004a0001c0008others(4): Show | a0001c0003t0004a0001c0003t0009a0001c0004t0004others(7): Show | a0001c0003t0004g0059 a0001c0003t0009g0087 a0001c0004t0004g0313 others(9): Show |
12 | 336 | 0.0357 | 3 | c.-23 others(14): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 2247 | chr1 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1518621 | A | ACCC | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01081.hp1 others(35): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0014others(9): Show | a0001c0001t0002g0194 a0001c0003t0001g0010 a0001c0003t0001g0050 others(32): Show |
38 | 112 | 0.3393 | 3 | c.445 others(18): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1521298 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG01517.hp1 HG02071.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0017others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0248 a0001c0001t0001g0278 others(10): Show |
17 | 205 | 0.0829 | 3 | c.750 others(18): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1469099 | T | TAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG03139.hp2 others(5): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0015t0009a0002c0002t0005others(3): Show | a0001c0001t0001g0009 a0001c0015t0009g0128 a0002c0002t0005g0015 others(4): Show |
8 | 50 | 0.1600 | 3 | c.-27 others(14): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 2665 | chr1 | TogoVar | |||||||
ATAD3B_chr1_1466765_1502848 | 1500515 | G | GGAC | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02300.hp2 |
a0001 | a0001c0011a0001c0019 | a0001c0011t0007a0001c0019t0007 | a0001c0011t0007g0096 a0001c0019t0007g0022 |
3 | 274 | 0.0109 | 3 | c.*46 others(14): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 2668 | chr1 | TogoVar |