regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 34272706 | C | CAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02486.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(8): Show | a0001c0001t0001g0061a0001c0001t0001g0092a0001c0001t0001g0097others(16): Show | 19 | 246 | 0.0772 | 5 | c.884 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34308868 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0001g0092a0001c0001t0001g0140a0001c0001t0015g0157others(2): Show | 5 | 246 | 0.0203 | 5 | c.883 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34325950 | A | AAAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01074.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0005others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0047others(18): Show | 21 | 246 | 0.0854 | 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 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0050others(51): Show | 54 | 186 | 0.2903 | 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 |
a0001a0002a0015 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0012t0001others(2): Show | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0093others(6): Show | 9 | 186 | 0.0484 | 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 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0003g0029others(15): Show | 18 | 186 | 0.0968 | 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 | a0001c0001t0003g0029a0001c0001t0004g0031a0001c0003t0005g0158others(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 | a0003c0004t0001g0024a0003c0004t0001g0040 | 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 | a0001c0001t0001g0026a0001c0001t0001g0055a0001c0001t0002g0084others(22): Show | 25 | 186 | 0.1344 | 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 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0037others(45): Show | 48 | 186 | 0.2581 | 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 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(37): Show | 40 | 186 | 0.2151 | 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 | a0001c0011t0004g0051a0001c0011t0006g0101a0002c0015t0007g0166others(12): Show | 15 | 186 | 0.0807 | 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 | 372 | 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 | a0001c0001t0001g0120a0001c0001t0001g0156a0001c0001t0001g0159others(24): Show | 27 | 434 | 0.0622 | 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 | a0001c0001t0001g0029a0001c0001t0013g0036a0002c0002t0001g0096others(3): Show | 7 | 434 | 0.0161 | 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 | a0001c0001t0001g0292a0001c0001t0003g0045a0001c0001t0003g0122others(9): Show | 12 | 299 | 0.0401 | 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 | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(6): Show | a0001c0001t0001g0180a0001c0001t0001g0208a0001c0001t0015g0226others(19): Show | 22 | 299 | 0.0736 | 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 | a0001c0003t0001g0074a0001c0003t0001g0082a0001c0003t0001g0114others(4): Show | 7 | 299 | 0.0234 | 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 | a0001c0001t0001g0201a0001c0002t0001g0243a0001c0003t0001g0107 | 3 | 299 | 0.0100 | 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 | a0001c0003t0001g0054a0001c0003t0001g0056a0001c0003t0001g0058others(53): Show | 56 | 299 | 0.1873 | 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 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0053others(98): Show | 101 | 299 | 0.3378 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0035others(6): Show | a0001c0001t0001g0139a0001c0001t0003g0045a0001c0001t0003g0112others(27): Show | 30 | 299 | 0.1003 | 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 | a0001c0003t0001g0130a0001c0003t0001g0131a0001c0003t0001g0220 | 3 | 299 | 0.0100 | 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 | a0001c0001t0003g0041a0001c0002t0008g0039a0001c0002t0008g0042others(1): Show | 4 | 299 | 0.0134 | 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 | a0001c0002t0001g0241a0001c0002t0001g0242a0001c0002t0001g0282others(194): Show | 197 | 308 | 0.6396 | 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 |
a0001a0002a0028others(1): Show | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(7): Show | a0001c0002t0001g0114a0001c0002t0001g0235a0001c0002t0001g0241others(10): Show | 13 | 308 | 0.0422 | 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 | a0001c0013t0001g0153a0001c0045t0002g0146a0002c0061t0003g0062others(34): Show | 37 | 308 | 0.1201 | 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 | a0003c0001t0001g0132a0003c0001t0001g0140a0003c0001t0001g0141others(9): Show | 12 | 308 | 0.0390 | 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(75): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0003a0001c0010others(31): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(40): Show | a0001c0002t0001g0035a0001c0002t0001g0079a0001c0002t0001g0081others(75): Show | 78 | 308 | 0.2533 | 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(228): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(207): Show | 231 | 274 | 0.8431 | 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 | a0001c0001t0001g0186a0001c0001t0001g0232a0001c0001t0001g0236 | 3 | 274 | 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 | a0001c0001t0001g0030a0001c0001t0001g0046a0001c0001t0001g0051others(8): Show | 11 | 364 | 0.0302 | 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 |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0047others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0043others(22): Show | 32 | 374 | 0.0856 | 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 | a0001c0002t0002g0067a0001c0002t0002g0078a0001c0002t0002g0091others(1): Show | 4 | 374 | 0.0107 | 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 |
a0010a0043a0051others(2): Show | a0010c0009a0043c0033a0051c0027others(2): Show | a0010c0009t0001a0043c0033t0001a0051c0027t0009others(2): Show | a0010c0009t0001g0004a0043c0033t0001g0157a0051c0027t0009g0159others(2): Show | 6 | 368 | 0.0163 | 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 |
a0030a0040a0050others(4): Show | a0030c0056a0030c0174a0040c0041others(5): Show | a0030c0056t0001a0030c0174t0010a0040c0041t0001others(5): Show | a0030c0056t0001g0201a0030c0056t0001g0258a0030c0174t0010g0165others(6): Show | 9 | 368 | 0.0245 | 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 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(266): Show | 269 | 324 | 0.8303 | 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 | a0001c0001t0002g0006a0001c0001t0002g0119a0001c0001t0002g0280others(3): Show | 6 | 324 | 0.0185 | 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 | a0001c0001t0001g0256a0001c0001t0001g0274a0001c0001t0001g0287others(12): Show | 15 | 324 | 0.0463 | 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 | a0001c0001t0002g0281a0001c0001t0002g0293a0001c0001t0020g0324 | 3 | 324 | 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 | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0023others(42): Show | 45 | 324 | 0.1389 | 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(84): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0119a0001c0001t0002g0308a0001c0001t0002g0309others(84): Show | 87 | 324 | 0.2685 | 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 | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(35): Show | 38 | 324 | 0.1173 | 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 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0105others(4): Show | 7 | 295 | 0.0237 | 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 |
a0001a0008 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(37): Show | 43 | 295 | 0.1458 | 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 | a0002c0006t0005g0098a0002c0006t0005g0099a0002c0006t0005g0208 | 3 | 295 | 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 |
a0001a0006 | a0001c0001a0001c0015a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0018others(23): Show | 27 | 295 | 0.0915 | 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 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(26): Show | 32 | 386 | 0.0829 | 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 | a0001c0001t0001g0052a0001c0001t0001g0054a0002c0004t0001g0023others(7): Show | 15 | 404 | 0.0371 | 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 | a0002c0003t0001g0013a0002c0004t0001g0007a0002c0004t0001g0021others(8): Show | 20 | 404 | 0.0495 | 5 | c.*42 others(16): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 3966 | chr6 | TogoVar |