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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACER3_chr11_76855918_77031797 | 76932278 | CTCTT | C | intron_variant | MODIFIER | NA18990.hp1 NA19062.hp1 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0040a0002c0002t0041a0002c0002t0095 | a0002c0002t0040g0244a0002c0002t0041g0236a0002c0002t0095g0237 | 3 | 346 | 0.0087 | -4 | c.214 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76941037 | ACACG | A | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02622.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0003g0020a0001c0001t0003g0026a0001c0001t0003g0029others(18): Show | 21 | 346 | 0.0607 | -4 | c.214 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76948211 | CTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0002g0181a0001c0001t0003g0028a0001c0001t0003g0055others(77): Show | 80 | 346 | 0.2312 | -4 | c.215 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76950352 | CATAT | C | intron_variant | MODIFIER | HG02132.hp2 HG03225.hp1 NA19065.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0041a0002c0002t0042a0002c0002t0110 | a0002c0002t0041g0236a0002c0002t0041g0276a0002c0002t0042g0302others(1): Show | 4 | 346 | 0.0116 | -4 | c.215 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76952126 | TTATA | T | intron_variant | MODIFIER | HG00673.hp2 HG01255.hp1 HG01256.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0003g0029a0001c0001t0005g0160a0001c0001t0005g0165others(17): Show | 20 | 346 | 0.0578 | -4 | c.215 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76952137 | TATAC | T | intron_variant | MODIFIER | HG01167.hp2 NA18906.hp2 NA19068.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0153a0002c0004t0006a0002c0004t0015 | a0001c0003t0153g0125a0002c0004t0006g0305a0002c0004t0015g0311 | 3 | 346 | 0.0087 | -4 | c.215 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76952139 | TACAC | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01106.hp2 others(14): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0046a0002c0004t0006others(4): Show | a0002c0002t0001g0003a0002c0002t0046g0330a0002c0002t0046g0331others(14): Show | 17 | 346 | 0.0491 | -4 | c.215 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76974963 | TCAAA | T | intron_variant | MODIFIER | HG02622.hp1 NA18948.hp2 NA19082.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0148 | a0001c0001t0005g0130a0001c0001t0005g0159a0001c0001t0005g0189others(1): Show | 4 | 346 | 0.0116 | -4 | c.268 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76997906 | ATTAC | A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG03490.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009a0002c0002t0019 | a0002c0002t0001g0264a0002c0002t0001g0288a0002c0002t0001g0289others(3): Show | 6 | 346 | 0.0173 | -4 | c.439 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005036 | CTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp1 HG02055.hp2 others(13): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0130a0001c0003t0131a0001c0003t0132others(13): Show | a0001c0003t0130g0346a0001c0003t0131g0342a0001c0003t0132g0343others(13): Show | 16 | 346 | 0.0462 | -4 | c.497 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005972 | CATAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02886.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0025a0002c0002t0118others(2): Show | a0002c0002t0020g0214a0002c0002t0020g0215a0002c0002t0020g0217others(5): Show | 8 | 346 | 0.0231 | -4 | c.497 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77024272 | CAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG03041.hp2 HG03540.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0037a0001c0001t0049a0001c0001t0051others(4): Show | a0001c0001t0037g0099a0001c0001t0037g0128a0001c0001t0049g0172others(5): Show | 8 | 346 | 0.0231 | -4 | c.*39 others(15): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 3971 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACE_chr17_63472061_63503373 | 63472612 | CAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(32): Show |
a0001 | a0001c0001a0001c0007a0001c0017others(1): Show | a0001c0001t0001a0001c0007t0002a0001c0017t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(10): Show | 35 | 374 | 0.0936 | -4 | c.-44 others(15): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 4448 | chr17 | TogoVar | ||||||
ACE_chr17_63472061_63503373 | 63500969 | CCTCT | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03195.hp2 others(1): Show |
a0001a0006 | a0001c0008a0001c0024a0006c0011 | a0001c0008t0001a0001c0024t0003a0006c0011t0007 | a0001c0008t0001g0103a0001c0024t0003g0140a0006c0011t0007g0037 | 4 | 374 | 0.0107 | -4 | c.*36 others(15): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 2597 | chr17 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23070760 | GCTGA | G | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01255.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0251a0001c0001t0001g0252a0001c0001t0001g0254others(4): Show | 8 | 350 | 0.0229 | -4 | c.212 others(23): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
ACKR1_chr1_159199875_159211500 | 159200518 | GCACA | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00735.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0006t0001g0001others(5): Show | 107 | 446 | 0.2399 | -4 | c.-44 others(15): Show |
ACKR1 | ENSG00000213088.13 | transcript | ENST00000368122.4 | protein_coding | 4356 | chr1 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42816189 | CGTGT | C | intron_variant | MODIFIER | NA18941.hp2 NA19060.hp1 NA19080.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0016a0001c0001t0008g0017a0002c0002t0002g0218 | 3 | 342 | 0.0088 | -4 | c.-11 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42822145 | TATAG | T | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001a0002c0002t0002g0023 | 3 | 342 | 0.0088 | -4 | c.-38 others(21): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42822165 | TATAA | T | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 NA18951.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0009a0001c0001t0001g0203a0002c0002t0002g0324 | 4 | 342 | 0.0117 | -4 | c.-38 others(21): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42840259 | CAAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03225.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0009a0004c0005t0009 | a0002c0002t0009g0010a0002c0002t0009g0091a0002c0002t0009g0204others(2): Show | 6 | 342 | 0.0175 | -4 | c.-38 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42843034 | CTATT | C | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 HG01516.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0108a0001c0001t0001g0113a0001c0001t0001g0128others(22): Show | 26 | 342 | 0.0760 | -4 | c.-37 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42869882 | GTCTA | G | downstream_gene_variant | MODIFIER | HG01074.hp2 HG03130.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0098a0001c0001t0011g0099a0001c0001t0011g0100 | 3 | 342 | 0.0088 | -4 | c.*42 others(15): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2597 | chr3 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566718 | CCCTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01993.hp2 others(11): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 14 | 394 | 0.0355 | -4 | c.-32 others(15): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 3106 | chr2 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566838 | CTCTT | C | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02647.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0140a0001c0002t0001g0025a0001c0002t0001g0094 | 4 | 394 | 0.0102 | -4 | c.-31 others(15): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 2986 | chr2 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566931 | TTGCC | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0104a0001c0002t0001g0017others(5): Show | 13 | 394 | 0.0330 | -4 | c.-30 others(15): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 2893 | chr2 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236566949 | GCCTT | G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(107): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(59): Show | 110 | 394 | 0.2792 | -4 | c.-30 others(15): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 2875 | chr2 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236570844 | CTCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(140): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 143 | 394 | 0.3629 | -4 | c.-27 others(19): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACKR3_chr2_236564825_236587354 | 236575495 | CTGTG | C | intron_variant | MODIFIER | HG01978.hp2 HG01993.hp1 NA18969.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0134 | 5 | 394 | 0.0127 | -4 | c.-26 others(21): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACLY_chr17_41861918_41923951 | 41863190 | CTTTT | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01884.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0003t0004a0001c0012t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(16): Show | 19 | 294 | 0.0646 | -4 | c.*46 others(15): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 3727 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41863887 | CTTTA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(7): Show | a0001c0001t0001g0047a0001c0001t0001g0255a0001c0001t0002g0009others(64): Show | 67 | 294 | 0.2279 | -4 | c.*39 others(15): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 3030 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41882367 | CAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01168.hp1 others(23): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0047a0001c0001t0001g0255a0001c0001t0002g0009others(23): Show | 26 | 294 | 0.0884 | -4 | c.226 others(21): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41891390 | CATTT | C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01192.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0011 | a0001c0001t0001a0001c0009t0001a0004c0011t0001 | a0001c0001t0001g0013a0001c0001t0001g0068a0001c0001t0001g0069others(17): Show | 20 | 294 | 0.0680 | -4 | c.177 others(21): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41903755 | CAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0020others(53): Show | 56 | 294 | 0.1905 | -4 | c.106 others(21): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 10/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41916378 | GTTTT | G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01256.hp2 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0047a0001c0001t0001g0255a0001c0001t0002g0009others(24): Show | 27 | 294 | 0.0918 | -4 | c.-23 others(21): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834766 | GGGGA | G | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02451.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0236a0001c0001t0001g0295a0001c0001t0001g0317others(5): Show | 8 | 382 | 0.0209 | -4 | c.-39 others(15): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3849 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834851 | GGGAA | G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01516.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0067a0001c0001t0001g0076others(8): Show | 11 | 382 | 0.0288 | -4 | c.-38 others(15): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134836141 | ATTAT | A | upstream_gene_variant | MODIFIER | NA18966.hp1 NA18967.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0306a0001c0001t0001g0321others(1): Show | 4 | 382 | 0.0105 | -4 | c.-25 others(15): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2474 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134838382 | TTTTG | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(197): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(194): Show | 200 | 382 | 0.5236 | -4 | c.-30 others(13): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 233 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134838398 | GTTTT | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01070.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0043a0001c0001t0001g0044others(28): Show | 31 | 382 | 0.0812 | -4 | c.-28 others(13): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 217 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134845509 | GTCTC | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0028others(64): Show | 68 | 382 | 0.1780 | -4 | c.102 others(19): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134847395 | TACAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(62): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(60): Show | 65 | 382 | 0.1702 | -4 | c.102 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134847397 | CAGAT | C | intron_variant | MODIFIER | HG00140.hp1 HG02155.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298a0001c0001t0001g0303a0001c0001t0001g0328others(1): Show | 4 | 382 | 0.0105 | -4 | c.102 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134849963 | AACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(86): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(84): Show | 89 | 382 | 0.2330 | -4 | c.102 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134892462 | AAAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01358.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(19): Show | 22 | 382 | 0.0576 | -4 | c.850 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACO1_chr9_32379643_32459769 | 32454782 | CTTAT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(61): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0018others(37): Show | a0001c0001t0006g0011a0001c0001t0006g0012a0001c0001t0006g0022others(58): Show | 64 | 382 | 0.1675 | -4 | c.*46 others(15): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 14 | chr9 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41469839 | TGATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0016others(241): Show | 257 | 334 | 0.7695 | -4 | c.36+ others(17): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ACO2_chr22_41464117_41533974 | 41477128 | TATTA | T | intron_variant | MODIFIER | NA18961.hp2 NA18994.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249a0001c0001t0001g0271a0001c0001t0001g0284 | 3 | 334 | 0.0090 | -4 | c.36+ others(19): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41477129 | ATTAT | A | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp2 HG02451.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0165a0001c0002t0001g0024others(11): Show | 14 | 334 | 0.0419 | -4 | c.36+ others(19): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ACO2_chr22_41464117_41533974 | 41526182 | GCTGC | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(50): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(47): Show | 53 | 334 | 0.1587 | -4 | c.176 others(19): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ACOD1_chr13_76943511_76963638 | 76944257 | CAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(100): Show |
a0001a0004a0007 | a0001c0001a0004c0007a0007c0010 | a0001c0001t0001a0004c0007t0001a0007c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0025others(14): Show | 103 | 434 | 0.2373 | -4 | c.-43 others(15): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar |