| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALLC_chr2_3653200_3707671 | 3690266 | C | CCCCCCT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02723.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0003c0003t0001g0026others(7): Show | 10 | 274 | 0.0365 | 6 | c.512 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALLC_chr2_3653200_3707671 | 3690348 | T | TCCCCTC | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG02738.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009a0003c0003t0001g0133 | 3 | 274 | 0.0110 | 6 | c.512 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73385903 | T | TGGAGGA | disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG01257.hp2 HG01433.hp1 others(10): Show |
a0007a0057a0058 | a0007c0006a0057c0075a0058c0074 | a0007c0006t0001a0057c0075t0001a0058c0074t0001 | a0007c0006t0001g0122a0007c0006t0001g0127a0007c0006t0001g0131others(10): Show | 13 | 248 | 0.0524 | 6 | c.69_ others(11): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALMS1_chr2_73380836_73614916 | 73391294 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(4): Show |
a0008a0027a0028 | a0008c0008a0027c0032a0028c0033 | a0008c0008t0001a0027c0032t0001a0028c0033t0001 | a0008c0008t0001g0232a0008c0008t0001g0233a0008c0008t0001g0234others(4): Show | 7 | 248 | 0.0282 | 6 | c.324 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73396303 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01106.hp1 others(3): Show |
a0001a0025a0056others(1): Show | a0001c0001a0001c0066a0025c0031others(2): Show | a0001c0001t0001a0001c0066t0001a0025c0031t0001others(2): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0066t0001g0135others(3): Show | 6 | 248 | 0.0242 | 6 | c.324 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01175.hp1 others(13): Show |
a0002a0003a0004others(2): Show | a0002c0004a0003c0002a0004c0003others(3): Show | a0002c0004t0001a0003c0002t0001a0004c0003t0002others(3): Show | a0002c0004t0001g0033a0003c0002t0001g0063a0004c0003t0002g0065others(13): Show | 16 | 248 | 0.0645 | 6 | c.325 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73441610 | A | ACTATTC | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0005a0008a0017others(4): Show | a0005c0005a0005c0058a0008c0008others(5): Show | a0005c0005t0001a0005c0058t0001a0008c0008t0001others(5): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | 248 | 0.1008 | 6 | c.143 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01167.hp1 others(36): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0023a0002c0054others(13): Show | a0001c0001t0001a0002c0023t0001a0002c0054t0001others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0154a0001c0001t0001g0170others(36): Show | 39 | 248 | 0.1573 | 6 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(39): Show |
a0002a0005a0008others(9): Show | a0002c0004a0002c0011a0002c0047others(14): Show | a0002c0004t0001a0002c0011t0001a0002c0047t0001others(14): Show | a0002c0004t0001g0031a0002c0004t0001g0034a0002c0004t0001g0035others(39): Show | 42 | 248 | 0.1694 | 6 | c.767 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73474403 | G | GTGTGTC | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(18): Show |
a0002a0004a0009others(4): Show | a0002c0004a0002c0020a0002c0040others(10): Show | a0002c0004t0001a0002c0020t0001a0002c0040t0001others(10): Show | a0002c0004t0001g0031a0002c0004t0001g0046a0002c0004t0001g0051others(18): Show | 21 | 248 | 0.0847 | 6 | c.767 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73508129 | T | TCCTTTC | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0002a0038 | a0002c0020a0002c0040a0038c0051 | a0002c0020t0001a0002c0040t0001a0038c0051t0001 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | 248 | 0.0161 | 6 | c.954 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73515768 | T | TACACAC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(50): Show |
a0002a0003a0004others(9): Show | a0002c0004a0003c0002a0004c0003others(10): Show | a0002c0004t0001a0003c0002t0001a0004c0003t0002others(10): Show | a0002c0004t0001g0033a0002c0004t0001g0034a0002c0004t0001g0035others(50): Show | 53 | 248 | 0.2137 | 6 | c.954 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG02055.hp2 others(5): Show |
a0002a0005a0017others(1): Show | a0002c0004a0002c0023a0005c0005others(2): Show | a0002c0004t0001a0002c0023t0001a0005c0005t0001others(2): Show | a0002c0004t0001g0034a0002c0004t0001g0037a0002c0023t0001g0195others(5): Show | 8 | 248 | 0.0323 | 6 | c.115 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
a0002a0004a0009others(15): Show | a0002c0004a0002c0011a0002c0023others(25): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(25): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(70): Show | 73 | 248 | 0.2944 | 6 | c.115 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGG | intron_variant | MODIFIER | HG01074.hp2 NA18959.hp1 NA18959.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0033a0002c0002t0001g0035a0002c0002t0001g0059others(3): Show | 8 | 404 | 0.0198 | 6 | c.141 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
| ALOX15_chr17_4625919_4646678 | 4634959 | C | CAATAAT | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0014a0001c0001t0002g0084a0001c0002t0002g0154others(1): Show | 7 | 472 | 0.0148 | 6 | c.116 others(23): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 8/13 | chr17 | TogoVar | ||||||
| ALOX5_chr10_45369216_45451117 | 45374099 | T | TGCGGGG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(16): Show |
a0001a0007a0009 | a0001c0001a0001c0004a0007c0017others(1): Show | a0001c0001t0001a0001c0004t0001a0007c0017t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0044a0001c0001t0001g0045others(15): Show | 19 | 345 | 0.0551 | 6 | c.-18 others(15): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | ||||||
| ALOX5_chr10_45369216_45451117 | 45384833 | C | CTATTAT | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0069a0001c0004t0001g0037a0001c0004t0001g0038others(2): Show | 5 | 345 | 0.0145 | 6 | c.349 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ALOX5_chr10_45369216_45451117 | 45391077 | G | GTCTCCC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0172a0001c0001t0001g0178a0001c0001t0001g0189others(4): Show | 7 | 345 | 0.0203 | 6 | c.350 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ALOX5_chr10_45369216_45451117 | 45409509 | G | GTCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(97): Show | 112 | 345 | 0.3246 | 6 | c.432 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ALOXE3_chr17_8090900_8123514 | 8094241 | G | GACACAC | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG02165.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0002g0359a0001c0002t0001g0012a0001c0002t0001g0044others(13): Show | 16 | 422 | 0.0379 | 6 | c.*23 others(17): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1658 | chr17 | TogoVar | ||||||
| ALOXE3_chr17_8090900_8123514 | 8113654 | A | AAACAAC | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0033others(6): Show | 9 | 422 | 0.0213 | 6 | c.680 others(21): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 6/15 | chr17 | TogoVar | ||||||
| ALPK1_chr4_112292369_112447621 | 112418748 | A | AAATGAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(212): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0007others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0046others(211): Show | 215 | 306 | 0.7026 | 6 | c.476 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(53): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0042others(53): Show | 56 | 306 | 0.1830 | 6 | c.353 others(21): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ALPK2_chr18_58476247_58634091 | 58478606 | G | GTATATA | downstream_gene_variant | MODIFIER | HG03516.hp1 HG03834.hp1 HG04115.hp1 |
a0001a0002a0007 | a0001c0006a0002c0002a0007c0007 | a0001c0006t0009a0002c0002t0005a0007c0007t0001 | a0001c0006t0009g0045a0002c0002t0005g0307a0007c0007t0001g0285 | 3 | 320 | 0.0094 | 6 | c.*32 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2640 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58479164 | A | ATATTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02257.hp2 others(9): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0003c0012others(6): Show | a0002c0002t0004a0003c0003t0004a0003c0012t0007others(6): Show | a0002c0002t0004g0297a0003c0003t0004g0202a0003c0003t0004g0262others(9): Show | 12 | 320 | 0.0375 | 6 | c.*26 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2082 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58484752 | T | TATAATA | intron_variant | MODIFIER | HG01981.hp1 HG02145.hp1 HG02148.hp2 others(17): Show |
a0005a0006a0007others(11): Show | a0005c0005a0006c0039a0007c0007others(13): Show | a0005c0005t0015a0006c0039t0008a0007c0007t0008others(13): Show | a0005c0005t0015g0020a0006c0039t0008g0120a0006c0039t0008g0283others(17): Show | 20 | 320 | 0.0625 | 6 | c.629 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58487177 | T | TTACAGA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(156): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0006a0001c0016others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(58): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(156): Show | 159 | 320 | 0.4969 | 6 | c.629 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACAC | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02015.hp2 others(13): Show |
a0003a0004a0009others(6): Show | a0003c0003a0003c0012a0004c0004others(8): Show | a0003c0003t0001a0003c0003t0002a0003c0012t0001others(11): Show | a0003c0003t0001g0294a0003c0003t0002g0059a0003c0012t0001g0195others(13): Show | 16 | 320 | 0.0500 | 6 | c.196 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58629563 | T | TCACACA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01109.hp2 others(2): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(2): Show | a0002c0002t0002a0003c0003t0002a0004c0004t0002others(2): Show | a0002c0002t0002g0072a0003c0003t0002g0059a0004c0004t0002g0067others(2): Show | 5 | 320 | 0.0156 | 6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
| ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp2 others(3): Show |
a0007a0024a0034others(1): Show | a0007c0007a0024c0025a0034c0037others(1): Show | a0007c0007t0011a0024c0025t0010a0024c0025t0014others(2): Show | a0007c0007t0011g0112a0024c0025t0010g0110a0024c0025t0014g0109others(3): Show | 6 | 320 | 0.0188 | 6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
| ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01243.hp1 others(72): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0021others(65): Show | 75 | 340 | 0.2206 | 6 | c.305 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGAGA | intron_variant | MODIFIER | HG01256.hp2 HG02257.hp2 HG02886.hp1 others(3): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0022others(3): Show | a0001c0001t0005a0001c0004t0015a0001c0022t0019others(3): Show | a0001c0001t0005g0176a0001c0004t0015g0079a0001c0022t0019g0099others(3): Show | 6 | 340 | 0.0177 | 6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ALPK3_chr15_84812356_84878479 | 84850879 | T | TATACAC | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0004a0001c0044a0002c0006others(3): Show | a0001c0004t0006a0001c0044t0006a0002c0006t0032others(3): Show | a0001c0004t0006g0106a0001c0044t0006g0185a0002c0006t0032g0200others(4): Show | 7 | 340 | 0.0206 | 6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ALPL_chr1_21504423_21583410 | 21515870 | T | TTTGTTG | intron_variant | MODIFIER | HG02723.hp2 NA18995.hp1 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0175a0002c0002t0001g0176a0002c0002t0004g0177 | 3 | 370 | 0.0081 | 6 | c.-10 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ALPL_chr1_21504423_21583410 | 21545275 | T | TTTTTTG | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0001 | a0001c0001t0004g0162a0001c0001t0004g0163a0001c0001t0007g0110others(2): Show | 5 | 370 | 0.0135 | 6 | c.-10 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ALPL_chr1_21504423_21583410 | 21554325 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0220a0001c0001t0003g0266a0001c0001t0003g0328others(4): Show | 7 | 370 | 0.0189 | 6 | c.61+ others(19): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
a0002 | a0002c0002a0002c0005a0002c0006others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0017a0002c0002t0001g0028others(6): Show | 14 | 410 | 0.0342 | 6 | c.*32 others(17): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201706535 | T | TTATATA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(46): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0001a0001c0003t0007a0004c0008t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(42): Show | 49 | 354 | 0.1384 | 6 | c.458 others(23): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201713133 | C | CTTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0014 | a0001c0003a0001c0004a0002c0006others(1): Show | a0001c0003t0007a0001c0004t0001a0002c0006t0001others(1): Show | a0001c0003t0007g0040a0001c0004t0001g0003a0001c0004t0001g0044others(9): Show | 13 | 354 | 0.0367 | 6 | c.400 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201719590 | A | AAAAAAT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp1 others(53): Show |
a0001a0005a0009 | a0001c0002a0001c0003a0005c0012others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0002t0001g0121a0001c0003t0002g0008a0001c0003t0002g0009others(49): Show | 56 | 354 | 0.1582 | 6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201748204 | T | TTGTGTG | intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0175a0001c0003t0002g0176a0001c0003t0002g0177others(1): Show | 4 | 354 | 0.0113 | 6 | c.181 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 8/33 | chr2 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201758760 | A | ATGTGTG | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0023a0001c0001t0006g0331a0001c0001t0006g0332 | 3 | 354 | 0.0085 | 6 | c.111 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
| ALX1_chr12_85275220_85306784 | 85304645 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(16): Show | 59 | 384 | 0.1537 | 6 | c.*31 others(17): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2862 | chr12 | TogoVar | ||||||
| ALX4_chr11_44255440_44315139 | 44257293 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0005a0001c0002t0005a0001c0002t0015others(10): Show | a0001c0001t0005g0325a0001c0001t0005g0326a0001c0002t0005g0220others(33): Show | 36 | 388 | 0.0928 | 6 | c.*75 others(17): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 3146 | chr11 | TogoVar | ||||||
| AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(128): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0001g0096a0001c0001t0001g0178a0001c0001t0005g0141others(43): Show | 131 | 438 | 0.2991 | 6 | c.740 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
| AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTG | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01358.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 3 | 438 | 0.0069 | 6 | c.740 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
| AMACR_chr5_33981165_34013050 | 34003242 | C | CCGAAAT | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02896.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0007a0008c0008t0011a0008c0008t0032 | a0008c0008t0007g0042a0008c0008t0007g0043a0008c0008t0011g0115others(1): Show | 6 | 438 | 0.0137 | 6 | c.552 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
| AMBN_chr4_70587256_70612288 | 70588670 | A | ACTCCGT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0002t0002g0139others(2): Show | 7 | 480 | 0.0146 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3585 | chr4 | TogoVar | ||||||
| AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATA | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02723.hp2 NA18906.hp1 |
a0001a0004a0011 | a0001c0002a0004c0006a0011c0017 | a0001c0002t0002a0004c0006t0004a0011c0017t0005 | a0001c0002t0002g0126a0004c0006t0004g0161a0011c0017t0005g0131 | 3 | 480 | 0.0063 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar |