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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPL_chr1_21504423_21583410 | 21561691 | C | CGG | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02280.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0301a0002c0002t0005g0126a0002c0002t0005g0157others(2): Show | 5 | 370 | 0.0135 | 2 | c.297 others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21572904 | T | TGC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(95): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0002g0178a0001c0001t0002g0179a0001c0001t0002g0235others(95): Show | 98 | 370 | 0.2649 | 2 | c.863 others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21574532 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(251): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(250): Show | 254 | 370 | 0.6865 | 2 | c.997 others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21579422 | G | GAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(251): Show | 255 | 370 | 0.6892 | 2 | c.*17 others(13): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1013 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21581981 | C | CAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(99): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035a0001c0001t0002g0001a0001c0001t0002g0023others(98): Show | 102 | 370 | 0.2757 | 2 | c.*43 others(13): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 3572 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232377286 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(69): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(19): Show | 72 | 410 | 0.1756 | 2 | c.-15 others(13): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 1464 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232378909 | A | AAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show |
a0003a0007a0013others(1): Show | a0003c0003a0003c0008a0007c0020others(2): Show | a0003c0003t0002a0003c0008t0002a0007c0020t0002others(2): Show | a0003c0003t0002g0003a0003c0003t0002g0006a0003c0003t0002g0023others(5): Show | 55 | 410 | 0.1342 | 2 | c.76+ others(13): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALS2CL_chr3_46663995_46698679 | 46665263 | T | TAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(46): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0004a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0001t0004g0023a0001c0001t0004g0052a0001c0001t0004g0091others(21): Show | 49 | 390 | 0.1256 | 2 | c.*57 others(13): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 3731 | chr3 | TogoVar | ||||||
ALS2CL_chr3_46663995_46698679 | 46678000 | C | CAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(26): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0002c0004others(5): Show | a0001c0002t0003a0002c0003t0002a0002c0003t0008others(10): Show | a0001c0002t0003g0034a0002c0003t0002g0038a0002c0003t0002g0169others(16): Show | 29 | 390 | 0.0744 | 2 | c.175 others(19): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 16/25 | chr3 | TogoVar | ||||||
ALS2CL_chr3_46663995_46698679 | 46689057 | C | CCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(267): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(66): Show | a0001c0001t0001g0134a0001c0001t0004g0052a0001c0001t0006g0133others(145): Show | 270 | 390 | 0.6923 | 2 | c.103 others(17): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 2/25 | chr3 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201705948 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp2 others(53): Show |
a0001a0005a0009 | a0001c0002a0001c0003a0005c0012others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0002t0001g0085a0001c0003t0002g0008a0001c0003t0002g0009others(49): Show | 56 | 354 | 0.1582 | 2 | c.458 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201712770 | G | GAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(323): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(304): Show | 326 | 354 | 0.9209 | 2 | c.400 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201713133 | C | CTT | intron_variant | MODIFIER | HG01123.hp1 HG02145.hp1 HG02698.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0003a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0003g0025a0001c0002t0001g0054a0001c0002t0001g0100others(4): Show | 7 | 354 | 0.0198 | 2 | c.400 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201716542 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(67): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(6): Show | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0267others(61): Show | 70 | 354 | 0.1977 | 2 | c.383 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 24/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201720539 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01099.hp2 others(43): Show |
a0001a0005a0009 | a0001c0003a0005c0012a0009c0015 | a0001c0003t0002a0001c0003t0004a0005c0012t0002others(1): Show | a0001c0003t0002g0008a0001c0003t0002g0009a0001c0003t0002g0010others(39): Show | 46 | 354 | 0.1299 | 2 | c.370 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201720714 | A | AAC | intron_variant | MODIFIER | HG01081.hp1 HG02083.hp1 HG02486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0083a0001c0002t0001g0069a0001c0003t0001g0042others(4): Show | 7 | 354 | 0.0198 | 2 | c.370 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201732399 | C | CAA | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp2 others(4): Show |
a0001a0003a0015 | a0001c0001a0003c0007a0015c0023 | a0001c0001t0001a0003c0007t0001a0015c0023t0001 | a0001c0001t0001g0212a0001c0001t0001g0261a0003c0007t0001g0034others(4): Show | 7 | 354 | 0.0198 | 2 | c.258 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 13/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201739235 | C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0080a0001c0002t0001g0114others(7): Show | 10 | 354 | 0.0283 | 2 | c.235 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201748049 | A | AAC | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0206a0001c0001t0003g0020a0001c0001t0003g0021others(10): Show | 13 | 354 | 0.0367 | 2 | c.181 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 8/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758755 | T | TGC | intron_variant | MODIFIER | HG03209.hp2 HG04115.hp1 NA18941.hp1 others(3): Show |
a0001a0011 | a0001c0002a0001c0003a0011c0017 | a0001c0002t0001a0001c0003t0002a0011c0017t0001 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0141others(3): Show | 6 | 354 | 0.0170 | 2 | c.111 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758760 | A | ATG | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01109.hp2 others(20): Show |
a0001a0003a0015 | a0001c0001a0001c0004a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0206a0001c0001t0003g0020others(19): Show | 23 | 354 | 0.0650 | 2 | c.111 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201764475 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(112): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(101): Show | 115 | 354 | 0.3249 | 2 | c.176 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201767705 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(108): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(97): Show | 111 | 354 | 0.3136 | 2 | c.21- others(15): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 2/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201767866 | T | TAA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0242a0001c0001t0001g0249a0001c0001t0001g0254others(8): Show | 11 | 354 | 0.0311 | 2 | c.21- others(15): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 2/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201772850 | A | ATT | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01069.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0208a0001c0001t0001g0209others(18): Show | 22 | 354 | 0.0622 | 2 | c.-60 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201772872 | T | TTC | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003a0015 | a0003c0007a0015c0023 | a0003c0007t0001a0015c0023t0001 | a0003c0007t0001g0032a0003c0007t0001g0033a0003c0007t0001g0036others(3): Show | 6 | 354 | 0.0170 | 2 | c.-60 others(19): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85282897 | T | TAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(5): Show | 12 | 384 | 0.0313 | 2 | c.227 others(17): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALX1_chr12_85275220_85306784 | 85284221 | G | GTT | intron_variant | MODIFIER | NA18943.hp1 NA18981.hp1 NA18985.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0052 | 8 | 384 | 0.0208 | 2 | c.531 others(17): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALX1_chr12_85275220_85306784 | 85299062 | A | AAC | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01243.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0001g0036others(11): Show | 25 | 384 | 0.0651 | 2 | c.661 others(19): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALX1_chr12_85275220_85306784 | 85304645 | C | CTG | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02717.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0001g0037others(12): Show | 18 | 384 | 0.0469 | 2 | c.*31 others(13): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2862 | chr12 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85304668 | T | TGC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(139): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(51): Show | 142 | 384 | 0.3698 | 2 | c.*31 others(13): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2885 | chr12 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85304674 | C | CGT | downstream_gene_variant | MODIFIER | NA18950.hp1 NA19070.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 3 | 384 | 0.0078 | 2 | c.*31 others(13): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2891 | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(30): Show | 68 | 422 | 0.1611 | 2 | c.278 others(19): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44257293 | A | AAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0007others(28): Show | a0001c0001t0002g0187a0001c0002t0003g0186a0001c0002t0003g0225others(54): Show | 58 | 388 | 0.1495 | 2 | c.*75 others(13): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 3146 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44299354 | G | GTT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01069.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0273others(15): Show | 18 | 388 | 0.0464 | 2 | c.466 others(21): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81895050 | C | CTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0003a0001c0002t0001g0004a0001c0002t0001g0008others(2): Show | 8 | 322 | 0.0248 | 2 | c.-34 others(13): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 3465 | chr17 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588673 | C | CCG | upstream_gene_variant | MODIFIER | HG02074.hp2 NA18951.hp1 NA18959.hp2 others(3): Show |
a0001a0017 | a0001c0001a0001c0002a0017c0024 | a0001c0001t0001a0001c0002t0002a0017c0024t0001 | a0001c0001t0001g0002a0001c0002t0002g0024a0017c0024t0001g0009 | 6 | 480 | 0.0125 | 2 | c.-36 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3582 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588675 | G | GTC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02027.hp1 NA18953.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0183others(1): Show | 7 | 480 | 0.0146 | 2 | c.-36 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3580 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTA | upstream_gene_variant | MODIFIER | HG01884.hp2 NA18939.hp2 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0033a0001c0001t0002g0165 | 4 | 480 | 0.0083 | 2 | c.-36 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(66): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0019others(33): Show | 69 | 480 | 0.1438 | 2 | c.-36 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01099.hp1 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 45 | 480 | 0.0938 | 2 | c.-18 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70595190 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01123.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0072a0001c0001t0001g0122others(8): Show | 14 | 480 | 0.0292 | 2 | c.85- others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBN_chr4_70587256_70612288 | 70603631 | G | GAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(46): Show |
a0002a0003a0020others(1): Show | a0002c0003a0002c0005a0002c0018others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(7): Show | a0002c0003t0001g0006a0002c0003t0001g0017a0002c0003t0001g0028others(30): Show | 49 | 480 | 0.1021 | 2 | c.753 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBN_chr4_70587256_70612288 | 70611484 | C | CAA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02135.hp1 HG03453.hp1 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0006 | a0001c0002t0002a0002c0005t0002a0004c0006t0002 | a0001c0002t0002g0032a0001c0002t0002g0160a0001c0002t0002g0171others(4): Show | 7 | 480 | 0.0146 | 2 | c.*47 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70611796 | A | ATT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01192.hp1 others(47): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0001t0002g0045a0001c0001t0002g0132a0001c0002t0002g0003others(37): Show | 50 | 480 | 0.1042 | 2 | c.*50 others(13): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4509 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114057046 | G | GGT | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092a0001c0001t0001g0210a0001c0001t0001g0212others(3): Show | 6 | 454 | 0.0132 | 2 | c.*31 others(13): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 3080 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114057799 | A | AGG | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01261.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0115others(15): Show | 23 | 454 | 0.0507 | 2 | c.*24 others(13): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 2327 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114058627 | T | TAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01074.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(13): Show | 18 | 454 | 0.0397 | 2 | c.*16 others(13): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 1499 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114063183 | G | GAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0160a0001c0001t0001g0169others(15): Show | 23 | 454 | 0.0507 | 2 | c.604 others(17): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114064662 | C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0143a0001c0001t0001g0160others(18): Show | 26 | 454 | 0.0573 | 2 | c.604 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar |