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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALMS1_chr2_73380836_73614916 | 73428846 | CCTT | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0008a0027a0028 | a0008c0008a0027c0032a0028c0033 | a0008c0008t0001a0027c0032t0001a0028c0033t0001 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | 248 | 0.0323 | -3 | c.133 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73429278 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | 248 | 0.0524 | -3 | c.133 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73439079 | TTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | 248 | 0.0444 | -3 | c.143 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73448097 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0002a0003a0004others(29): Show | a0002c0004a0002c0011a0002c0020others(43): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(43): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | 248 | 0.5202 | -3 | c.157 others(12): Show |
p.Pro others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1607/12844 | 1574/12507 | 525/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ALMS1_chr2_73380836_73614916 | 73521580 | CAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02976.hp2 others(2): Show |
a0005a0006a0017others(2): Show | a0005c0058a0006c0010a0017c0017others(2): Show | a0005c0058t0001a0006c0010t0001a0017c0017t0003others(2): Show | a0005c0058t0001g0110a0006c0010t0001g0104a0017c0017t0003g0224others(2): Show | 5 | 248 | 0.0202 | -3 | c.978 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73522467 | CTTT | C | intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 NA19043.hp2 others(2): Show |
a0009a0021a0033others(1): Show | a0009c0013a0021c0029a0033c0055others(1): Show | a0009c0013t0001a0021c0029t0001a0033c0055t0001others(1): Show | a0009c0013t0001g0240a0021c0029t0001g0119a0021c0029t0001g0121others(2): Show | 5 | 248 | 0.0202 | -3 | c.978 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73582514 | GAAC | G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01433.hp2 others(23): Show |
a0005a0006a0024others(2): Show | a0005c0005a0006c0007a0006c0010others(3): Show | a0005c0005t0001a0006c0007t0001a0006c0010t0001others(3): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(23): Show | 26 | 248 | 0.1048 | -3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73587004 | TTTG | T | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(37): Show |
a0002a0003a0010others(6): Show | a0002c0020a0002c0040a0003c0002others(7): Show | a0002c0020t0001a0002c0040t0001a0003c0002t0001others(7): Show | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(37): Show | 40 | 248 | 0.1613 | -3 | c.115 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8078894 | CTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01516.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0162a0001c0001t0001g0202others(4): Show | 8 | 462 | 0.0173 | -3 | c.107 others(20): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 6997555 | ATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0011a0001c0001t0001g0039a0001c0001t0001g0114others(4): Show | 13 | 404 | 0.0322 | -3 | c.337 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8045997 | CCAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0014a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(114): Show | 173 | 470 | 0.3681 | -3 | c.120 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8052839 | TAGA | T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01167.hp2 others(49): Show |
a0001a0002a0004others(4): Show | a0001c0029a0002c0002a0004c0006others(6): Show | a0001c0029t0004a0002c0002t0002a0004c0006t0003others(7): Show | a0001c0029t0004g0195a0002c0002t0002g0008a0004c0006t0003g0027others(40): Show | 52 | 470 | 0.1106 | -3 | c.*42 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3706 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4642686 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(133): Show | 336 | 472 | 0.7119 | -3 | c.-10 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1009 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4645757 | AACT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(371): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(157): Show | 374 | 472 | 0.7924 | -3 | c.-41 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 4080 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4646320 | TTCC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(363): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(154): Show | 366 | 472 | 0.7754 | -3 | c.-46 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 4643 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0046a0001c0001t0001g0057others(4): Show | 9 | 422 | 0.0213 | -3 | c.323 others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45371295 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(60): Show |
a0001 | a0001c0002a0001c0008a0001c0011others(2): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(4): Show | a0001c0002t0002g0004a0001c0002t0002g0025a0001c0002t0002g0026others(55): Show | 63 | 345 | 0.1826 | -3 | c.-29 others(14): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2920 | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45400869 | TATA | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0004t0001g0037others(3): Show | 6 | 345 | 0.0174 | -3 | c.431 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8097745 | ATCT | A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0033others(9): Show | 12 | 422 | 0.0284 | -3 | c.195 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107826 | AAAG | A | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02698.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0002g0109a0001c0001t0005g0004a0001c0001t0005g0344others(3): Show | 7 | 422 | 0.0166 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107865 | GAAA | G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183a0001c0002t0001g0201a0001c0002t0001g0202 | 3 | 422 | 0.0071 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107873 | GAAA | G | intron_variant | MODIFIER | HG01433.hp2 HG02074.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0140a0001c0001t0004g0407a0001c0002t0001g0040others(1): Show | 4 | 422 | 0.0095 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107877 | GAAA | G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006a0001c0002t0003g0401a0001c0002t0003g0402 | 4 | 422 | 0.0095 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107881 | GAAA | G | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0261a0001c0001t0002g0174a0001c0001t0002g0353others(3): Show | 6 | 422 | 0.0142 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107885 | GAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0086a0001c0001t0002g0141a0001c0001t0002g0270others(3): Show | 6 | 422 | 0.0142 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107889 | GAAA | G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0083a0001c0001t0002g0172a0001c0001t0002g0294others(6): Show | 9 | 422 | 0.0213 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107893 | GAAA | G | intron_variant | MODIFIER | HG00544.hp1 HG02071.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0147a0001c0001t0002g0288a0001c0001t0002g0350others(2): Show | 5 | 422 | 0.0119 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107897 | GAAA | G | intron_variant | MODIFIER | HG00733.hp1 HG02572.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0293a0001c0001t0004g0378a0001c0001t0005g0269others(3): Show | 6 | 422 | 0.0142 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107910 | AAAG | A | intron_variant | MODIFIER | HG01934.hp2 HG01975.hp2 HG02004.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0001a0003c0005t0001 | a0001c0001t0002g0188a0001c0002t0001g0185a0003c0005t0001g0191 | 3 | 422 | 0.0071 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107913 | GAAA | G | intron_variant | MODIFIER | HG02080.hp2 HG02273.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0365a0001c0002t0001g0039a0001c0002t0001g0298 | 3 | 422 | 0.0071 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107917 | GAAA | G | intron_variant | MODIFIER | NA18945.hp1 NA18982.hp2 NA19000.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0002a0001c0002t0001a0006c0008t0001 | a0001c0001t0002g0192a0001c0001t0002g0302a0001c0002t0001g0061others(1): Show | 4 | 422 | 0.0095 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107929 | GAAA | G | intron_variant | MODIFIER | HG02976.hp2 NA18943.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0351a0001c0002t0001g0146a0001c0002t0001g0210 | 3 | 422 | 0.0071 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107958 | AAAG | A | intron_variant | MODIFIER | HG02040.hp2 NA19012.hp1 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017 | a0001c0002t0001g0077a0001c0002t0001g0165a0001c0002t0017g0362 | 3 | 422 | 0.0071 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232402941 | CATT | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02451.hp2 others(7): Show |
a0003a0009a0016 | a0003c0003a0009c0012a0016c0024 | a0003c0003t0001a0009c0012t0001a0016c0024t0001 | a0003c0003t0001g0002a0009c0012t0001g0002a0016c0024t0001g0002 | 10 | 434 | 0.0230 | -3 | c.-39 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 3902 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232406992 | ACAC | A | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG03453.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0009 | 4 | 434 | 0.0092 | -3 | c.67+ others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232415183 | GCAC | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(47): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0002others(3): Show | a0001c0001t0001g0001a0002c0002t0001g0001a0002c0002t0001g0010others(6): Show | 50 | 434 | 0.1152 | -3 | c.*53 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 4470 | chr2 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112309980 | TTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0034others(1): Show | a0001c0001t0001a0002c0002t0002a0010c0034t0002others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0296others(3): Show | 6 | 306 | 0.0196 | -3 | c.-15 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112311981 | GTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0089a0001c0001t0001g0090others(34): Show | 38 | 306 | 0.1242 | -3 | c.-15 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112314876 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0089a0001c0001t0001g0296others(27): Show | 31 | 306 | 0.1013 | -3 | c.-15 others(20): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112332085 | ATGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0082a0001c0001t0001g0105a0001c0001t0001g0184others(44): Show | 47 | 306 | 0.1536 | -3 | c.-10 others(24): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112370849 | CTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0002a0002c0015t0002 | a0001c0001t0001g0090a0001c0001t0001g0137a0002c0002t0002g0240others(2): Show | 5 | 306 | 0.0163 | -3 | c.-10 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112382289 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01099.hp2 others(11): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0141a0001c0001t0001g0146others(11): Show | 14 | 306 | 0.0458 | -3 | c.122 others(16): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112429852 | AAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0008a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0089a0001c0001t0001g0099others(57): Show | 60 | 306 | 0.1961 | -3 | c.901 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112429855 | GAAA | G | intron_variant | MODIFIER | NA18954.hp1 NA18960.hp1 NA18964.hp2 others(2): Show |
a0005a0014 | a0005c0006a0014c0027 | a0005c0006t0006a0014c0027t0003 | a0005c0006t0006g0064a0005c0006t0006g0098a0005c0006t0006g0162others(2): Show | 5 | 306 | 0.0163 | -3 | c.901 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112432366 | GTTC | G | conservative_inframe_deletion | MODERATE | HG00735.hp1 HG02040.hp2 HG03834.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0010 | a0004c0005t0002g0134a0004c0005t0002g0164a0004c0005t0002g0218others(4): Show | 7 | 306 | 0.0229 | -3 | c.282 others(12): Show |
p.Ser others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 3077/5399 | 2824/3735 | 942/1244 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ALPK1_chr4_112292369_112447621 | 112436296 | CTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(115): Show |
a0001a0003a0006others(8): Show | a0001c0001a0001c0004a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(113): Show | 118 | 306 | 0.3856 | -3 | c.318 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112442746 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
a0001a0003a0014others(3): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(10): Show | a0001c0001t0003g0007a0001c0001t0003g0014a0001c0001t0003g0015others(93): Show | 96 | 306 | 0.3137 | -3 | c.*15 others(14): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 126 | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112443495 | CAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0014 | a0001c0001t0001a0001c0011t0005a0003c0014t0012 | a0001c0001t0001g0132a0001c0001t0001g0158a0001c0001t0001g0296others(6): Show | 9 | 306 | 0.0294 | -3 | c.*22 others(14): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 875 | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502176 | ACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0164a0001c0001t0001g0169a0001c0001t0001g0172others(41): Show | 44 | 320 | 0.1375 | -3 | c.624 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58528648 | CTGT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0014a0023a0036others(3): Show | a0014c0011a0023c0026a0036c0047others(3): Show | a0014c0011t0003a0014c0011t0007a0023c0026t0001others(6): Show | a0014c0011t0003g0259a0014c0011t0007g0082a0014c0011t0007g0083others(9): Show | 12 | 320 | 0.0375 | -3 | c.550 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar |