view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX15_chr17_4625919_4646678 | 4641683 | G | GTGA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0083 others(13): Show |
33 | 35 | 0.9429 | 3 | c.-33 others(10): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 6 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4642686 | C | CTTT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0057 others(4): Show |
12 | 43 | 0.2791 | 3 | c.-10 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1009 | chr17 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30736351 | A | AAAC | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show |
4 | 420 | 0.0095 | 3 | c.70+ others(16): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | C | CTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 others(32): Show |
52 | 55 | 0.9455 | 3 | c.71- others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30741831 | G | GTTT | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01123.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 others(22): Show |
38 | 100 | 0.3800 | 3 | c.71- others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45384833 | C | CTAT | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG03130.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0002a0002c0005t0003 | a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0107 others(3): Show |
7 | 320 | 0.0219 | 3 | c.349 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45402086 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01071.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0117 a0001c0001t0001g0135 others(34): Show |
39 | 102 | 0.3824 | 3 | c.431 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45405739 | C | CTTT | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0001g0038 others(3): Show |
6 | 135 | 0.0444 | 3 | c.432 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8098234 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(132): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0142 a0001c0001t0001g0203 a0001c0001t0001g0341 others(123): Show |
135 | 267 | 0.5056 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8099022 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG01516.hp2 others(7): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0002g0344 a0001c0002t0001g0063 a0001c0002t0001g0189 others(7): Show |
10 | 158 | 0.0633 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8099370 | T | TAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0069 others(344): Show |
370 | 420 | 0.8810 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107961 | G | GAAA | intron_variant | MODIFIER | HG02630.hp2 HG03834.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0006g0373 others(2): Show |
5 | 396 | 0.0126 | 3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107994 | G | GAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0129 a0001c0001t0002g0065 a0001c0001t0002g0130 others(5): Show |
8 | 413 | 0.0194 | 3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232402363 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0014a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(23): Show |
202 | 385 | 0.5247 | 3 | c.-45 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 4480 | chr2 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112320897 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0198 a0001c0001t0001g0279 a0001c0001t0001g0283 others(22): Show |
25 | 156 | 0.1603 | 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 | 112349551 | G | GCCC | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01255.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0090 others(19): Show |
22 | 100 | 0.2200 | 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 | 112349958 | G | GTCC | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0002a0002c0015t0002 | a0001c0001t0001g0090 a0001c0001t0001g0136 a0002c0002t0002g0255 others(2): Show |
5 | 304 | 0.0164 | 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 | 112353885 | A | AAAT | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02071.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0001others(4): Show | a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0208 others(10): Show |
13 | 304 | 0.0428 | 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 | 112382289 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG02165.hp2 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0105 others(20): Show |
23 | 120 | 0.1917 | 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 | 112424198 | T | TAAA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0008a0001c0016t0015a0002c0002t0002others(1): Show | a0001c0001t0008g0134 a0001c0016t0015g0123 a0002c0002t0002g0050 others(3): Show |
6 | 133 | 0.0451 | 3 | c.535 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112426962 | G | GTCA | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02630.hp1 others(9): Show |
a0001a0005a0021 | a0001c0001a0005c0006a0021c0027 | a0001c0001t0001a0001c0001t0007a0005c0006t0006others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0125 a0001c0001t0001g0161 others(9): Show |
12 | 304 | 0.0395 | 3 | c.699 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483726 | A | ATTT | intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 HG02145.hp1 others(20): Show |
a0003a0004a0005others(13): Show | a0003c0020a0004c0003a0005c0005others(15): Show | a0003c0020t0003a0003c0020t0008a0004c0003t0003others(16): Show | a0003c0020t0003g0258 a0003c0020t0008g0143 a0004c0003t0003g0262 others(20): Show |
23 | 226 | 0.1018 | 3 | c.629 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58484752 | T | TATA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(131): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0079a0001c0080others(29): Show | a0001c0002t0001a0001c0002t0002a0001c0079t0001others(37): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(131): Show |
134 | 216 | 0.6204 | 3 | c.629 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58520428 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(125): Show |
a0001a0003a0005others(23): Show | a0001c0002a0001c0014a0001c0079others(41): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(70): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(125): Show |
128 | 157 | 0.8153 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTCT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01243.hp2 others(29): Show |
a0005a0007a0009others(7): Show | a0005c0005a0005c0085a0005c0087others(11): Show | a0005c0005t0001a0005c0005t0002a0005c0005t0004others(19): Show | a0005c0005t0001g0124 a0005c0005t0001g0202 a0005c0005t0001g0308 others(29): Show |
32 | 54 | 0.5926 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01081.hp1 others(5): Show |
a0010a0017a0019others(4): Show | a0010c0011a0017c0026a0019c0073others(4): Show | a0010c0011t0003a0017c0026t0003a0017c0026t0017others(5): Show | a0010c0011t0003g0259 a0017c0026t0003g0123 a0017c0026t0017g0064 others(5): Show |
8 | 30 | 0.2667 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58524951 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02886.hp2 others(11): Show |
a0008a0011a0026 | a0008c0027a0008c0035a0008c0041others(2): Show | a0008c0027t0002a0008c0027t0010a0008c0035t0008others(7): Show | a0008c0027t0002g0021 a0008c0027t0002g0074 a0008c0027t0010g0104 others(11): Show |
14 | 200 | 0.0700 | 3 | c.550 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58525967 | G | GAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01243.hp2 others(56): Show |
a0001a0003a0005others(12): Show | a0001c0002a0001c0023a0001c0077others(26): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(42): Show | a0001c0002t0001g0147 a0001c0002t0001g0219 a0001c0002t0002g0002 others(56): Show |
59 | 170 | 0.3471 | 3 | c.550 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58531648 | G | GAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
a0001a0002a0003others(15): Show | a0001c0002a0002c0001a0002c0006others(22): Show | a0001c0002t0003a0002c0001t0001a0002c0001t0002others(42): Show | a0001c0002t0003g0148 a0001c0002t0003g0180 a0001c0002t0003g0181 others(103): Show |
106 | 140 | 0.7571 | 3 | c.535 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58531935 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(65): Show |
a0001a0003a0006others(9): Show | a0001c0002a0001c0014a0001c0023others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(44): Show | a0001c0002t0001g0185 a0001c0002t0001g0232 a0001c0002t0001g0246 others(65): Show |
68 | 94 | 0.7234 | 3 | c.535 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58545698 | A | ACTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(56): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0080a0001c0081others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(32): Show | a0001c0002t0001g0146 a0001c0002t0001g0200 a0001c0002t0001g0231 others(56): Show |
59 | 318 | 0.1855 | 3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58551110 | G | GAAA | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02970.hp1 others(7): Show |
a0003a0004a0008others(2): Show | a0003c0021a0004c0003a0004c0071others(3): Show | a0003c0021t0001a0004c0003t0001a0004c0003t0003others(6): Show | a0003c0021t0001g0274 a0004c0003t0001g0268 a0004c0003t0003g0262 others(7): Show |
10 | 152 | 0.0658 | 3 | c.196 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58573613 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0079a0001c0080others(33): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(57): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(127): Show |
130 | 168 | 0.7738 | 3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58593563 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG02258.hp2 HG02615.hp1 others(3): Show |
a0014a0019a0034 | a0014c0022a0014c0072a0019c0033others(1): Show | a0014c0022t0004a0014c0072t0003a0019c0033t0008others(1): Show | a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 others(3): Show |
6 | 156 | 0.0385 | 3 | c.228 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58600027 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01256.hp1 others(12): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0080a0001c0083others(9): Show | a0001c0002t0004a0001c0080t0001a0001c0083t0010others(11): Show | a0001c0002t0004g0297 a0001c0080t0001g0300 a0001c0083t0010g0103 others(12): Show |
15 | 70 | 0.2143 | 3 | c.227 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58614677 | G | GCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0014a0002c0001others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0126 a0001c0002t0001g0185 a0001c0002t0001g0232 others(22): Show |
25 | 318 | 0.0786 | 3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58622022 | T | TAAA | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG02040.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0079a0002c0001a0002c0016others(7): Show | a0001c0079t0001a0002c0001t0001a0002c0016t0006others(8): Show | a0001c0079t0001g0220 a0002c0001t0001g0237 a0002c0016t0006g0052 others(9): Show |
12 | 282 | 0.0426 | 3 | c.-21 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84812839 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(143): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(119): Show |
146 | 196 | 0.7449 | 3 | c.-46 others(14): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4516 | chr15 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84838600 | C | CATT | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01109.hp1 others(20): Show |
a0001a0002a0007others(3): Show | a0001c0004a0001c0041a0001c0044others(7): Show | a0001c0004t0005a0001c0004t0006a0001c0004t0011others(12): Show | a0001c0004t0005g0175 a0001c0004t0006g0080 a0001c0004t0006g0081 others(16): Show |
23 | 318 | 0.0723 | 3 | c.305 others(18): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21513059 | C | CTAT | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01255.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(1): Show | a0001c0001t0002g0257 a0001c0001t0003g0246 a0001c0003t0005g0252 others(7): Show |
10 | 367 | 0.0272 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21515870 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0107 others(340): Show |
344 | 365 | 0.9425 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21530777 | A | ATTT | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0128 others(5): Show |
8 | 175 | 0.0457 | 3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21533935 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(60): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0073 a0001c0001t0002g0197 a0001c0001t0002g0220 others(60): Show |
63 | 298 | 0.2114 | 3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21551719 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp2 others(39): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0014others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0067 a0001c0001t0003g0075 a0001c0001t0003g0096 others(39): Show |
42 | 126 | 0.3333 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21576246 | G | GGAT | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0279 a0002c0002t0010g0282 a0002c0002t0010g0283 |
3 | 362 | 0.0083 | 3 | c.119 others(20): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21579422 | G | GAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0222 a0001c0001t0002g0271 a0001c0001t0003g0002 others(64): Show |
68 | 74 | 0.9189 | 3 | c.*17 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1013 | chr1 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21582691 | A | ATTT | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 a0001c0001t0004g0142 a0001c0001t0004g0143 others(2): Show |
5 | 367 | 0.0136 | 3 | c.*50 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4282 | chr1 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232377286 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(74): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0006a0002c0009others(9): Show | a0001c0001t0001a0002c0006t0001a0002c0009t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0006t0001g0001 others(13): Show |
77 | 152 | 0.5066 | 3 | c.-15 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 1464 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAA | downstream_gene_variant | MODIFIER | HG00280.hp1 NA18945.hp2 NA18965.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0009 |
5 | 264 | 0.0189 | 3 | c.*32 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | |||||||
ALS2CL_chr3_46663995_46698679 | 46678000 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG03130.hp2 others(3): Show |
a0002a0004 | a0002c0011a0004c0016a0004c0036 | a0002c0011t0017a0002c0011t0018a0004c0016t0015others(1): Show | a0002c0011t0017g0044 a0002c0011t0018g0209 a0004c0016t0015g0043 others(1): Show |
6 | 128 | 0.0469 | 3 | c.175 others(20): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 16/25 | chr3 | TogoVar |