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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB2_chr11_34145987_34363010 | 34325950 | A | AAAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0005others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0047 others(17): Show |
20 | 95 | 0.2105 | 5 | c.883 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107360930 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00621.hp2 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(34): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0065 others(51): Show |
54 | 66 | 0.8182 | 5 | c.113 others(26): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107522802 | G | GGGGAA | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01433.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0012t0001others(2): Show | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 others(6): Show |
9 | 184 | 0.0489 | 5 | c.128 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107542311 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01978.hp2 HG02015.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0003g0029 others(15): Show |
18 | 108 | 0.1667 | 5 | c.128 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107544159 | G | GCCTTT | intron_variant | MODIFIER | HG00423.hp2 NA18942.hp1 NA18979.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0003t0005others(4): Show | a0001c0001t0003g0029 a0001c0001t0004g0031 a0001c0003t0005g0158 others(4): Show |
7 | 186 | 0.0376 | 5 | c.149 others(20): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107564137 | T | TGTGTG | intron_variant | MODIFIER | HG01169.hp1 HG02056.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0024 a0003c0004t0001g0040 |
2 | 186 | 0.0108 | 5 | c.149 others(26): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107608893 | T | TAAATA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01099.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0030others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0084 others(22): Show |
25 | 146 | 0.1712 | 5 | c.164 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608968 | T | TATAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0037 others(45): Show |
48 | 151 | 0.3179 | 5 | c.164 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643752 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(37): Show |
40 | 169 | 0.2367 | 5 | c.292 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107644972 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG01257.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0011a0002c0015a0003c0021others(5): Show | a0001c0011t0004a0001c0011t0006a0002c0015t0007others(9): Show | a0001c0011t0004g0066 a0001c0011t0006g0101 a0002c0015t0007g0166 others(12): Show |
15 | 83 | 0.1807 | 5 | c.292 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA1_chr3_38117715_38142127 | 38123134 | A | AAACTT | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 370 | 0.0081 | 5 | c.120 others(20): Show |
ACAA1 | ENSG00000060971.19 | transcript | ENST00000333167.13 | protein_coding | 11/11 | chr3 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49787260 | T | TAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0001g0158 others(24): Show |
27 | 247 | 0.1093 | 5 | c.954 others(18): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49815208 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02683.hp2 NA18906.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(1): Show | a0001c0001t0001g0029 a0001c0001t0013g0036 a0002c0002t0001g0094 others(3): Show |
7 | 195 | 0.0359 | 5 | c.-17 others(16): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1676 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37080074 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01099.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0292 a0001c0001t0003g0045 a0001c0001t0003g0122 others(9): Show |
12 | 94 | 0.1277 | 5 | c.*72 others(16): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4917 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37128023 | T | TAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0013 | a0001c0001t0001a0001c0001t0014a0001c0003t0001others(6): Show | a0001c0001t0001g0180 a0001c0001t0001g0208 a0001c0001t0014g0226 others(19): Show |
22 | 251 | 0.0876 | 5 | c.594 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG02155.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0114 others(4): Show |
7 | 89 | 0.0787 | 5 | c.508 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174014 | A | ATTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0201 a0001c0002t0001g0243 a0001c0003t0001g0107 |
3 | 257 | 0.0117 | 5 | c.507 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37230061 | C | CAAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(53): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(7): Show | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0059 others(53): Show |
56 | 298 | 0.1879 | 5 | c.324 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 25/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37269763 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(98): Show |
101 | 251 | 0.4024 | 5 | c.111 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37338097 | A | AAAAAT | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01891.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(6): Show | a0001c0001t0001g0139 a0001c0001t0003g0045 a0001c0001t0003g0112 others(27): Show |
30 | 275 | 0.1091 | 5 | c.85+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342436 | A | ATATAT | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0219 |
3 | 201 | 0.0149 | 5 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390251 | T | TATATA | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0008 | a0001c0001t0003g0041 a0001c0002t0008g0039 a0001c0002t0008g0042 others(1): Show |
4 | 231 | 0.0173 | 5 | c.38+ others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109126948 | T | TACTCA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(194): Show |
a0001a0002a0003others(30): Show | a0001c0002a0001c0003a0001c0004others(97): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(114): Show | a0001c0002t0001g0002 a0001c0002t0001g0280 a0001c0002t0001g0282 others(193): Show |
197 | 306 | 0.6438 | 5 | c.-10 others(24): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATA | intron_variant | MODIFIER | HG02027.hp2 HG02922.hp2 HG03239.hp2 others(10): Show |
a0001a0002a0027others(1): Show | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(7): Show | a0001c0002t0001g0002 a0001c0002t0001g0114 a0001c0002t0001g0235 others(9): Show |
13 | 253 | 0.0514 | 5 | c.-9- others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109140890 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp2 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0013a0001c0045a0002c0061others(10): Show | a0001c0013t0001a0001c0045t0002a0002c0061t0003others(14): Show | a0001c0013t0001g0136 a0001c0045t0002g0142 a0002c0061t0003g0061 others(34): Show |
37 | 175 | 0.2114 | 5 | c.653 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109144750 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02738.hp2 HG02818.hp1 others(9): Show |
a0003a0006a0008others(1): Show | a0003c0001a0003c0005a0003c0081others(3): Show | a0003c0001t0001a0003c0001t0004a0003c0005t0002others(4): Show | a0003c0001t0001g0132 a0003c0001t0001g0147 a0003c0001t0001g0148 others(9): Show |
12 | 85 | 0.1412 | 5 | c.653 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109152640 | C | CTTTCT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp2 others(74): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0003a0001c0010others(31): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(39): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0079 others(73): Show |
77 | 241 | 0.3195 | 5 | c.653 others(24): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214030 | T | TAATAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(206): Show |
230 | 272 | 0.8456 | 5 | c.536 others(22): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210216938 | A | AAAAAC | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0232 a0001c0001t0001g0236 |
3 | 272 | 0.0110 | 5 | c.372 others(20): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0052 others(8): Show |
11 | 32 | 0.3438 | 5 | c.946 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123020324 | A | AGGTTG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00733.hp2 others(29): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0012others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0047others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0051 others(19): Show |
32 | 372 | 0.0860 | 5 | c.42+ others(22): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045157 | A | ATTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013 | a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0084 others(1): Show |
4 | 342 | 0.0117 | 5 | c.900 others(20): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88815656 | T | TAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02965.hp2 others(3): Show |
a0010a0023a0033others(2): Show | a0010c0011a0023c0022a0033c0077others(2): Show | a0010c0011t0001a0023c0022t0001a0033c0077t0001others(2): Show | a0010c0011t0001g0004 a0023c0022t0001g0157 a0033c0077t0001g0155 others(2): Show |
6 | 170 | 0.0353 | 5 | c.-8+ others(22): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88850943 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0011a0024a0037others(2): Show | a0011c0050a0011c0054a0011c0088others(5): Show | a0011c0050t0010a0011c0054t0001a0011c0088t0001others(5): Show | a0011c0050t0010g0165 a0011c0054t0001g0201 a0011c0054t0001g0258 others(6): Show |
9 | 335 | 0.0269 | 5 | c.202 others(22): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195309009 | G | GAAAGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(266): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(266): Show |
269 | 322 | 0.8354 | 5 | c.858 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351129 | T | TTTTTG | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0119 a0001c0001t0002g0285 others(3): Show |
6 | 179 | 0.0335 | 5 | c.286 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195374705 | C | CCTTTT | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp1 HG02056.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0255 a0001c0001t0001g0279 a0001c0001t0001g0288 others(12): Show |
15 | 229 | 0.0655 | 5 | c.285 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195424237 | T | TGTGTG | intron_variant | MODIFIER | HG01175.hp1 HG03195.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0286 a0001c0001t0002g0296 a0001c0001t0020g0324 |
3 | 322 | 0.0093 | 5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195425026 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(42): Show |
45 | 198 | 0.2273 | 5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195438024 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(83): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0119 a0001c0001t0002g0308 a0001c0001t0002g0309 others(83): Show |
86 | 322 | 0.2671 | 5 | c.53+ others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195438028 | T | TTTTTC | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show |
38 | 318 | 0.1195 | 5 | c.53+ others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289854 | C | CCCCGT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp1 HG03669.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0105 others(4): Show |
7 | 238 | 0.0294 | 5 | c.*37 others(16): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2536 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289854 | C | CTCCGT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01192.hp2 others(40): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(35): Show |
43 | 274 | 0.1569 | 5 | c.*37 others(16): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2536 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1293960 | T | TCGGGG | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG01975.hp2 |
a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0096 a0002c0006t0005g0097 a0002c0006t0005g0201 |
3 | 294 | 0.0102 | 5 | c.225 others(20): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 22/23 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1308546 | C | CGGGGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG01257.hp2 others(24): Show |
a0001a0005 | a0001c0001a0001c0015a0005c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0020 others(22): Show |
27 | 157 | 0.1720 | 5 | c.-73 others(14): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 617 | chr1 | TogoVar | |||||||
ACAT1_chr11_108116567_108152603 | 108141369 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01258.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(26): Show |
32 | 177 | 0.1808 | 5 | c.731 others(20): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACAT2_chr6_159757045_159784112 | 159763629 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0002c0004t0001g0023 others(6): Show |
15 | 177 | 0.0847 | 5 | c.190 others(20): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACAT2_chr6_159757045_159784112 | 159783077 | C | CTATAG | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01099.hp2 others(17): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0014 a0002c0004t0001g0007 a0002c0004t0001g0015 others(7): Show |
20 | 402 | 0.0498 | 5 | c.*42 others(16): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 3966 | chr6 | TogoVar | |||||||
ACAT2_chr6_159757045_159784112 | 159783361 | C | CTGGTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(128): Show |
320 | 402 | 0.7960 | 5 | c.*45 others(16): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 4250 | chr6 | TogoVar | |||||||
ACBD3_chr1_226139679_226191741 | 226170333 | A | ATTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 HG01978.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0177 others(3): Show |
6 | 77 | 0.0779 | 5 | c.287 others(22): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar |