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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58483567 | T | TTATC | intron_variant | MODIFIER | NA18963.hp1 NA18986.hp1 NA18991.hp1 |
a0001a0002 | a0001c0001a0002c0080 | a0001c0001t0001a0002c0080t0001 | a0001c0001t0001g0169a0001c0001t0001g0172a0002c0080t0001g0300 | 3 | 320 | 0.0094 | 4 | c.629 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483726 | A | ATTTT | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02486.hp1 others(12): Show |
a0002a0006a0008others(8): Show | a0002c0014a0006c0024a0008c0041others(9): Show | a0002c0014t0001a0006c0024t0001a0006c0024t0013others(11): Show | a0002c0014t0001g0249a0006c0024t0001g0271a0006c0024t0013g0090others(12): Show | 15 | 320 | 0.0469 | 4 | c.629 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58487175 | A | ACGTC | 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 | 4 | c.629 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502133 | T | TACAC | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01081.hp1 |
a0014a0023a0042 | a0014c0011a0023c0026a0042c0063 | a0014c0011t0003a0023c0026t0017a0042c0063t0007 | a0014c0011t0003g0259a0023c0026t0017g0064a0042c0063t0007g0069 | 3 | 320 | 0.0094 | 4 | c.624 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502134 | C | CCACA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01070.hp1 others(27): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(18): Show | a0001c0001t0001g0122a0001c0001t0001g0217a0001c0001t0002g0063others(27): Show | 30 | 320 | 0.0938 | 4 | c.624 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58520428 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(17): Show |
a0002a0004a0005others(7): Show | a0002c0002a0004c0004a0005c0005others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(13): Show | a0002c0002t0001g0185a0002c0002t0001g0219a0002c0002t0001g0221others(17): Show | 20 | 320 | 0.0625 | 4 | c.566 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58525967 | G | GAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02148.hp2 others(9): Show |
a0007a0009a0012others(3): Show | a0007c0059a0009c0008a0012c0023others(6): Show | a0007c0059t0015a0009c0008t0003a0012c0023t0010others(8): Show | a0007c0059t0015g0027a0009c0008t0003g0118a0009c0008t0003g0314others(9): Show | 12 | 320 | 0.0375 | 4 | c.550 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58531648 | G | GAAAA | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 HG03209.hp1 others(10): Show |
a0001a0003a0021others(2): Show | a0001c0001a0003c0003a0003c0012others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(8): Show | a0001c0001t0002g0062a0001c0001t0003g0223a0001c0001t0024g0299others(10): Show | 13 | 320 | 0.0406 | 4 | c.535 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58531935 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(39): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0014a0002c0079others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(18): Show | a0002c0002t0001g0166a0002c0002t0001g0174a0002c0002t0001g0215others(39): Show | 42 | 320 | 0.1313 | 4 | c.535 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01069.hp1 others(31): Show |
a0001a0002a0006others(11): Show | a0001c0006a0002c0014a0006c0024others(15): Show | a0001c0006t0002a0001c0006t0003a0001c0006t0009others(24): Show | a0001c0006t0002g0044a0001c0006t0002g0047a0001c0006t0002g0048others(31): Show | 34 | 320 | 0.1063 | 4 | c.196 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58565731 | G | GTTCC | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG02602.hp1 others(10): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(7): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(9): Show | a0001c0001t0001g0155a0003c0003t0001g0187a0003c0003t0001g0265others(10): Show | 13 | 320 | 0.0406 | 4 | c.196 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58573613 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00639.hp1 others(72): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0003c0003others(19): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(38): Show | a0001c0001t0001g0169a0001c0001t0001g0245a0002c0002t0001g0238others(72): Show | 75 | 320 | 0.2344 | 4 | c.196 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58600027 | C | CTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(47): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0016a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0122a0001c0001t0001g0164a0001c0001t0001g0176others(47): Show | 50 | 320 | 0.1563 | 4 | c.227 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58609093 | T | TCTCC | intron_variant | MODIFIER | HG01192.hp2 HG02040.hp2 HG02922.hp2 others(7): Show |
a0003a0004a0010others(4): Show | a0003c0012a0004c0068a0010c0069others(4): Show | a0003c0012t0001a0003c0012t0002a0003c0012t0007others(6): Show | a0003c0012t0001g0292a0003c0012t0002g0001a0003c0012t0007g0038others(7): Show | 10 | 320 | 0.0313 | 4 | c.110 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629544 | G | GTCTC | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02615.hp2 NA18960.hp2 |
a0004a0016a0019 | a0004c0004a0016c0018a0019c0032 | a0004c0004t0006a0016c0018t0005a0019c0032t0004 | a0004c0004t0006g0037a0016c0018t0005g0144a0019c0032t0004g0316 | 3 | 320 | 0.0094 | 4 | c.-80 others(13): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 454 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCACA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0006a0002c0002others(18): Show | a0001c0001t0002a0001c0001t0006a0001c0006t0002others(24): Show | a0001c0001t0002g0062a0001c0001t0002g0063a0001c0001t0002g0071others(39): Show | 42 | 320 | 0.1313 | 4 | c.-82 others(13): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58630592 | T | TACAC | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02922.hp2 HG04228.hp1 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0002a0002c0002t0003a0003c0003t0001others(8): Show | a0001c0001t0002g0056a0002c0002t0003g0301a0003c0003t0001g0304others(9): Show | 12 | 320 | 0.0375 | 4 | c.-18 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1502 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84812839 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01081.hp1 others(43): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0101others(38): Show | 46 | 340 | 0.1353 | 4 | c.-46 others(15): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4516 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84827342 | G | GAAGA | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp2 others(3): Show |
a0001a0005 | a0001c0022a0005c0015a0005c0045 | a0001c0022t0019a0005c0015t0008a0005c0045t0008 | a0001c0022t0019g0099a0005c0015t0008g0005a0005c0015t0008g0068others(1): Show | 6 | 340 | 0.0177 | 4 | c.183 others(19): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTG | intron_variant | MODIFIER | HG01496.hp1 HG02071.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0031others(1): Show | a0001c0001t0001a0001c0001t0008a0002c0003t0004others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0168a0001c0001t0008g0015others(4): Show | 9 | 340 | 0.0265 | 4 | c.305 others(21): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGA | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG02683.hp2 others(15): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0002c0003others(4): Show | a0001c0001t0017a0001c0004t0006a0001c0004t0015others(7): Show | a0001c0001t0017g0289a0001c0004t0006g0074a0001c0004t0015g0078others(11): Show | 18 | 340 | 0.0529 | 4 | c.165 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850875 | G | GATAT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01070.hp2 others(16): Show |
a0001a0015a0024 | a0001c0001a0001c0004a0001c0043others(2): Show | a0001c0001t0007a0001c0004t0007a0001c0004t0010others(6): Show | a0001c0001t0007g0213a0001c0001t0007g0218a0001c0001t0007g0220others(11): Show | 19 | 340 | 0.0559 | 4 | c.165 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TACAC | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01081.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0001t0006g0112a0001c0002t0002g0241a0001c0004t0001g0083others(16): Show | 22 | 340 | 0.0647 | 4 | c.165 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATAC | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp2 others(4): Show |
a0001a0005 | a0001c0004a0001c0022a0005c0015others(1): Show | a0001c0004t0007a0001c0022t0019a0005c0015t0008others(1): Show | a0001c0004t0007g0279a0001c0022t0019g0099a0005c0015t0008g0005others(2): Show | 7 | 340 | 0.0206 | 4 | c.165 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84877865 | T | TGATA | downstream_gene_variant | MODIFIER | NA18962.hp2 NA19000.hp1 NA19081.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0006 | a0001c0001t0001g0017a0001c0001t0001g0224a0002c0006t0006g0091 | 3 | 340 | 0.0088 | 4 | c.*94 others(15): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84877881 | A | AGATG | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01070.hp2 others(20): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0001c0022others(7): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0007g0213a0001c0001t0007g0218a0001c0001t0007g0220others(17): Show | 23 | 340 | 0.0677 | 4 | c.*94 others(15): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4403 | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21504778 | C | CTATT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(345): Show | 351 | 370 | 0.9487 | 4 | c.-48 others(15): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4644 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21515835 | G | GTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0002g0001others(121): Show | 125 | 370 | 0.3378 | 4 | c.-10 others(23): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21534056 | A | ATCAC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01074.hp2 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0107a0001c0001t0002g0198a0001c0001t0002g0360others(55): Show | 58 | 370 | 0.1568 | 4 | 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 | 21551719 | G | GTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01106.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0003g0066a0001c0001t0003g0210a0001c0001t0004g0265others(10): Show | 13 | 370 | 0.0351 | 4 | c.-10 others(23): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554325 | C | CATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(181): Show | 187 | 370 | 0.5054 | 4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554339 | T | TATAC | intron_variant | MODIFIER | HG02015.hp1 NA18612.hp1 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0024a0001c0001t0002g0083a0002c0002t0001g0037 | 3 | 370 | 0.0081 | 4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554799 | G | GTCTT | intron_variant | MODIFIER | HG01123.hp2 HG02602.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0107a0001c0001t0002g0097a0001c0001t0004g0038 | 3 | 370 | 0.0081 | 4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21565848 | G | GAGAA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(19): Show |
a0002a0004a0007 | a0002c0002a0002c0020a0004c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(5): Show | a0002c0002t0002g0068a0002c0002t0002g0105a0002c0002t0002g0120others(19): Show | 22 | 370 | 0.0595 | 4 | c.648 others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21576218 | T | TGATG | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0004 | a0001c0001t0004a0001c0012t0004a0003c0004t0005 | a0001c0001t0004g0018a0001c0001t0004g0113a0001c0001t0004g0255others(5): Show | 9 | 370 | 0.0243 | 4 | c.119 others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21579422 | G | GAAAA | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0003a0001c0001t0008a0002c0002t0003others(1): Show | a0001c0001t0003g0266a0001c0001t0003g0315a0001c0001t0008g0260others(6): Show | 9 | 370 | 0.0243 | 4 | c.*17 others(15): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1013 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232376162 | A | AAAAT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02615.hp2 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0008a0002c0009t0001g0014a0002c0009t0001g0034 | 6 | 410 | 0.0146 | 4 | c.-26 others(15): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2588 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232387292 | C | CGGTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG03486.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0010 | 7 | 410 | 0.0171 | 4 | c.*54 others(15): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 4404 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201698147 | A | AAGTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(324): Show | 349 | 354 | 0.9859 | 4 | c.*37 others(15): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 2119 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758755 | T | TGCGC | intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02015.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0090a0001c0002t0001g0091a0001c0002t0001g0123others(1): Show | 4 | 354 | 0.0113 | 4 | c.111 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758759 | C | CGCGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0006a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(9): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0149others(95): Show | 100 | 354 | 0.2825 | 4 | c.111 others(23): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201764634 | A | AAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00673.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0046a0001c0001t0001g0080a0001c0001t0001g0208others(38): Show | 41 | 354 | 0.1158 | 4 | c.175 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85304645 | C | CTGTG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(18): Show | 44 | 384 | 0.1146 | 4 | c.*31 others(15): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2862 | chr12 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85304668 | T | TGTGC | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02071.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(2): Show | 6 | 384 | 0.0156 | 4 | c.*31 others(15): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2885 | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCCCC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0005 | a0001c0001t0001a0004c0007t0001a0005c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(22): Show | 72 | 422 | 0.1706 | 4 | c.278 others(21): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44257293 | A | AACAC | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0002g0279a0001c0001t0004g0214a0001c0001t0004g0222others(62): Show | 67 | 388 | 0.1727 | 4 | c.*75 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 3146 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293099 | A | AGAAG | intron_variant | MODIFIER | HG02071.hp1 HG03704.hp2 NA18953.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0213a0001c0001t0002g0266others(3): Show | 6 | 388 | 0.0155 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293170 | A | AGGAG | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01943.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0004others(2): Show | a0001c0002t0028a0002c0003t0001a0002c0003t0010others(6): Show | a0001c0002t0028g0361a0002c0003t0001g0062a0002c0003t0001g0130others(8): Show | 11 | 388 | 0.0284 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293180 | C | CAGGG | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02922.hp1 others(9): Show |
a0001a0004 | a0001c0002a0004c0009a0004c0023others(1): Show | a0001c0002t0013a0001c0002t0052a0004c0009t0007others(6): Show | a0001c0002t0013g0268a0001c0002t0052g0193a0004c0009t0007g0170others(9): Show | 12 | 388 | 0.0309 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44294828 | C | CTATT | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02486.hp2 others(23): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0195a0001c0001t0001g0199others(22): Show | 26 | 388 | 0.0670 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar |