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 | 3697621 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02056.hp2 HG02895.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0142a0001c0001t0001g0145others(9): Show | 12 | 274 | 0.0438 | 8 | c.850 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3704590 | C | CGTGGGGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0147a0002c0002t0001g0065others(43): Show | 48 | 274 | 0.1752 | 8 | c.*20 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1920 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01167.hp1 others(24): Show |
a0002a0004a0005others(7): Show | a0002c0004a0002c0011a0002c0047others(11): Show | a0002c0004t0001a0002c0011t0001a0002c0047t0001others(11): Show | a0002c0004t0001g0031a0002c0004t0001g0036a0002c0004t0001g0037others(24): Show | 27 | 248 | 0.1089 | 8 | c.325 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73428904 | G | GGTTCACT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
a0021a0043 | a0021c0029a0043c0062 | a0021c0029t0001a0043c0062t0001 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | 248 | 0.0121 | 8 | c.133 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG01884.hp1 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0004a0002c0040others(7): Show | a0001c0001t0001a0002c0004t0001a0002c0040t0001others(7): Show | a0001c0001t0001g0217a0002c0004t0001g0033a0002c0004t0001g0035others(16): Show | 19 | 248 | 0.0766 | 8 | 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 | 73474407 | G | GTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01081.hp1 others(15): Show |
a0001a0007a0013others(4): Show | a0001c0001a0001c0066a0007c0006others(5): Show | a0001c0001t0001a0001c0066t0001a0007c0006t0001others(5): Show | a0001c0001t0001g0126a0001c0001t0001g0136a0001c0001t0001g0144others(15): Show | 18 | 248 | 0.0726 | 8 | c.767 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474411 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0002a0018a0019others(4): Show | a0002c0004a0002c0011a0002c0023others(7): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(7): Show | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(19): Show | 22 | 248 | 0.0887 | 8 | c.767 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01106.hp2 others(16): Show |
a0003a0008a0010others(6): Show | a0003c0002a0008c0008a0010c0009others(6): Show | a0003c0002t0001a0008c0008t0001a0010c0009t0001others(6): Show | a0003c0002t0001g0013a0003c0002t0001g0017a0003c0002t0001g0028others(16): Show | 19 | 248 | 0.0766 | 8 | c.954 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8087249 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(37): Show | 85 | 462 | 0.1840 | 8 | c.147 others(21): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8092328 | T | TTTTGTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01928.hp1 others(66): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(44): Show | 69 | 462 | 0.1494 | 8 | c.-48 others(19): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4613 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00673.hp2 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0014others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0024others(42): Show | 72 | 470 | 0.1532 | 8 | c.449 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044105 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01099.hp2 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(50): Show | 89 | 470 | 0.1894 | 8 | c.677 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044151 | G | GGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01167.hp2 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0010a0002c0002a0002c0003others(7): Show | a0001c0010t0004a0002c0002t0002a0002c0003t0001others(7): Show | a0001c0010t0004g0126a0002c0002t0002g0017a0002c0002t0002g0019others(13): Show | 25 | 470 | 0.0532 | 8 | c.677 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45371155 | G | GCATACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0035a0001c0003t0001g0006a0001c0003t0001g0032others(5): Show | 10 | 345 | 0.0290 | 8 | c.-31 others(19): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3060 | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45409509 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0125a0001c0001t0001g0214others(2): Show | 6 | 345 | 0.0174 | 8 | c.432 others(25): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45431548 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18956.hp1 NA18956.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0089a0001c0001t0001g0096a0001c0001t0001g0186others(2): Show | 5 | 345 | 0.0145 | 8 | c.981 others(25): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8092328 | T | TTTTGTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01928.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0049a0001c0001t0001g0122a0001c0001t0002g0025others(58): Show | 61 | 422 | 0.1446 | 8 | c.*42 others(19): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3571 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8093870 | T | TAATAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0231a0001c0001t0001g0244a0001c0001t0002g0067others(8): Show | 11 | 422 | 0.0261 | 8 | c.*27 others(19): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01106.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0261a0001c0001t0002g0147a0001c0001t0002g0159others(16): Show | 19 | 422 | 0.0450 | 8 | c.168 others(25): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112302736 | G | GCAAACAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0278a0001c0001t0003g0209a0001c0001t0003g0212others(19): Show | 22 | 306 | 0.0719 | 8 | c.-15 others(27): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112353868 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 HG02165.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0141a0001c0001t0001g0146others(4): Show | 8 | 306 | 0.0261 | 8 | c.-10 others(29): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112424965 | A | AACAAACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0072a0001c0001t0004g0244a0001c0001t0004g0245others(1): Show | 4 | 306 | 0.0131 | 8 | c.536 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00741.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0074a0001c0001t0001g0121others(31): Show | 35 | 306 | 0.1144 | 8 | c.353 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58478633 | T | TACACATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03098.hp2 others(4): Show |
a0002a0006a0011others(2): Show | a0002c0014a0006c0024a0011c0021others(3): Show | a0002c0014t0001a0006c0024t0001a0011c0021t0001others(3): Show | a0002c0014t0001g0249a0006c0024t0001g0271a0011c0021t0001g0274others(4): Show | 7 | 320 | 0.0219 | 8 | c.*31 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2613 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483529 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00639.hp2 others(51): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0009others(39): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0190others(51): Show | 54 | 320 | 0.1688 | 8 | c.629 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58492146 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(56): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0079others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0164a0001c0001t0001g0169a0001c0001t0001g0172others(56): Show | 59 | 320 | 0.1844 | 8 | c.629 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
a0008a0009a0034 | a0008c0035a0008c0041a0009c0008others(1): Show | a0008c0035t0006a0008c0035t0008a0008c0041t0001others(2): Show | a0008c0035t0006g0058a0008c0035t0008g0149a0008c0041t0001g0136others(3): Show | 6 | 320 | 0.0188 | 8 | c.566 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58565731 | G | GTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 HG06807.hp1 others(1): Show |
a0007a0016a0017 | a0007c0007a0016c0018a0017c0017 | a0007c0007t0001a0016c0018t0012a0017c0017t0012others(1): Show | a0007c0007t0001g0285a0016c0018t0012g0098a0017c0017t0012g0096others(1): Show | 4 | 320 | 0.0125 | 8 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58573266 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01069.hp1 others(38): Show |
a0001a0002a0006others(12): Show | a0001c0006a0002c0014a0006c0024others(16): Show | a0001c0006t0002a0001c0006t0003a0001c0006t0009others(28): Show | a0001c0006t0002g0044a0001c0006t0002g0047a0001c0006t0002g0048others(38): Show | 41 | 320 | 0.1281 | 8 | c.196 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18989.hp1 NA19080.hp1 others(1): Show |
a0003a0004a0010 | a0003c0071a0004c0004a0010c0010 | a0003c0071t0001a0004c0004t0001a0004c0004t0006others(1): Show | a0003c0071t0001g0291a0004c0004t0001g0302a0004c0004t0006g0033others(1): Show | 4 | 320 | 0.0125 | 8 | c.196 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629561 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02258.hp1 others(6): Show |
a0001a0006a0007others(4): Show | a0001c0006a0006c0024a0007c0007others(5): Show | a0001c0006t0011a0006c0024t0013a0007c0007t0010others(5): Show | a0001c0006t0011g0116a0006c0024t0013g0090a0007c0007t0010g0099others(6): Show | 9 | 320 | 0.0281 | 8 | c.-81 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 471 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02723.hp2 HG02970.hp2 others(5): Show |
a0005a0008a0012others(3): Show | a0005c0005a0008c0041a0012c0023others(4): Show | a0005c0005t0001a0008c0041t0001a0008c0041t0003others(5): Show | a0005c0005t0001g0308a0008c0041t0001g0136a0008c0041t0003g0135others(5): Show | 8 | 320 | 0.0250 | 8 | c.-82 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58630660 | T | TATACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp2 others(8): Show |
a0004a0007a0011others(5): Show | a0004c0004a0007c0007a0011c0020others(5): Show | a0004c0004t0011a0007c0007t0011a0011c0020t0008others(6): Show | a0004c0004t0011g0094a0007c0007t0011g0112a0011c0020t0008g0143others(8): Show | 11 | 320 | 0.0344 | 8 | c.-19 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1570 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00597.hp1 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0030others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(9): Show | a0001c0001t0001g0025a0001c0001t0001g0101a0001c0001t0001g0121others(28): Show | 34 | 340 | 0.1000 | 8 | c.305 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84838638 | T | TTATTATT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01167.hp1 others(65): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0100a0001c0001t0001g0101others(57): Show | 68 | 340 | 0.2000 | 8 | 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 | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp1 HG01993.hp1 others(18): Show |
a0001a0011a0012others(2): Show | a0001c0001a0011c0018a0012c0019others(2): Show | a0001c0001t0001a0001c0001t0005a0011c0018t0005others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0098a0001c0001t0001g0151others(17): Show | 21 | 340 | 0.0618 | 8 | c.165 others(27): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84877877 | A | AGATAGAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02280.hp2 others(5): Show |
a0001a0005 | a0001c0004a0005c0015a0005c0045 | a0001c0004t0004a0001c0004t0007a0005c0015t0008others(1): Show | a0001c0004t0004g0274a0001c0004t0007g0032a0001c0004t0007g0033others(3): Show | 8 | 340 | 0.0235 | 8 | c.*94 others(19): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4399 | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21504778 | C | CTATTTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 NA18950.hp1 NA18980.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0002g0069a0001c0001t0006g0046a0001c0001t0006g0253others(2): Show | 5 | 370 | 0.0135 | 8 | c.-48 others(19): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4644 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21551719 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01258.hp1 HG01517.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0005 | a0001c0001t0002g0024a0001c0001t0002g0083a0001c0001t0002g0179others(5): Show | 8 | 370 | 0.0216 | 8 | c.-10 others(27): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21576218 | T | TGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01433.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0004a0001c0019t0010 | a0001c0001t0004g0004a0001c0001t0004g0029a0001c0001t0004g0155others(1): Show | 4 | 370 | 0.0108 | 8 | c.119 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GAAGAGGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG03486.hp2 NA18963.hp2 |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0010 | 3 | 410 | 0.0073 | 8 | c.*32 others(19): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201706535 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(47): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0018others(41): Show | 50 | 354 | 0.1412 | 8 | c.458 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758760 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18968.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0245a0001c0001t0001g0255 | 4 | 354 | 0.0113 | 8 | c.111 others(27): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201764634 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01433.hp1 others(5): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0149a0001c0002t0001g0131a0001c0003t0002g0220others(5): Show | 8 | 354 | 0.0226 | 8 | c.175 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44291414 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(249): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(91): Show | a0001c0001t0001g0248a0001c0001t0001g0250a0001c0001t0001g0252others(247): Show | 252 | 388 | 0.6495 | 8 | c.467 others(27): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44294828 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0213a0001c0001t0002g0266a0001c0001t0004g0214others(5): Show | 8 | 388 | 0.0206 | 8 | c.466 others(27): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44309154 | T | TCCCGCAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(57): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(56): Show | 60 | 388 | 0.1546 | 8 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02040.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0038a0001c0002t0002g0128a0002c0003t0001g0006others(2): Show | 5 | 480 | 0.0104 | 8 | c.-36 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01978.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0020a0001c0001t0001g0072a0002c0003t0003g0017 | 4 | 480 | 0.0083 | 8 | c.-36 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(31): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0035others(18): Show | 34 | 480 | 0.0708 | 8 | c.-18 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar |