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 | 4631050 | A | AGGCCCCG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 470 | 0.0021 | 12 | c.*53 others(21): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 14/14 | 549 | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45374099 | T | TGCGGGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 HG03225.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0158 a0001c0001t0001g0196 a0001c0004t0001g0038 others(1): Show |
4 | 214 | 0.0187 | 12 | c.-18 others(21): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45384833 | C | CTATTATT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(10): Show |
14 | 327 | 0.0428 | 12 | c.349 others(29): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391077 | G | GTCTCCCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(182): Show |
207 | 336 | 0.6161 | 12 | c.350 others(29): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391081 | C | CCCTCTCC others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0001g0038 others(3): Show |
6 | 344 | 0.0174 | 12 | c.350 others(29): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45409527 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0141 | 1 | 343 | 0.0029 | 12 | c.432 others(29): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8092328 | T | TTTTGTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0002c0003t0002 | a0001c0001t0002g0162 a0001c0001t0002g0250 a0001c0001t0006g0357 others(2): Show |
5 | 330 | 0.0152 | 12 | c.*42 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3571 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8093870 | T | TAATAAAT others(5): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 101 | 0.0099 | 12 | c.*27 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8104245 | T | TGGATGGA others(5): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 420 | 0.0024 | 12 | c.168 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp2 HG02071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0309 a0001c0001t0004g0380 a0001c0002t0001g0059 others(7): Show |
10 | 246 | 0.0407 | 12 | c.168 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8108056 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 419 | 0.0024 | 12 | c.168 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112302736 | G | GCAAACAA others(5): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 124 | 0.0081 | 12 | c.-15 others(31): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03195.hp1 |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0007c0017t0001 | a0001c0001t0001g0086 a0007c0017t0001g0120 |
2 | 84 | 0.0238 | 12 | c.353 others(27): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478629 | T | TATATACA others(5): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0011 | a0011c0008 | a0011c0008t0008 | a0011c0008t0008g0250 | 1 | 235 | 0.0043 | 12 | c.*31 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2617 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478629 | T | TATATATA others(5): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02148.hp2 HG03453.hp1 others(6): Show |
a0003a0005a0007others(4): Show | a0003c0020a0005c0005a0007c0039others(4): Show | a0003c0020t0008a0005c0005t0015a0007c0039t0008others(4): Show | a0003c0020t0008g0143 a0005c0005t0015g0022 a0007c0039t0008g0120 others(6): Show |
9 | 243 | 0.0370 | 12 | c.*31 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2617 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478629 | T | TATATATA others(5): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0013 | a0013c0025 | a0013c0025t0014 | a0013c0025t0014g0111 | 1 | 235 | 0.0043 | 12 | c.*31 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2617 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58479060 | G | GTGTATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0019 | a0019c0033 | a0019c0033t0008 | a0019c0033t0008g0287 | 1 | 186 | 0.0054 | 12 | c.*27 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2186 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58479068 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02148.hp2 HG02572.hp1 others(13): Show |
a0003a0005a0006others(9): Show | a0003c0020a0005c0005a0006c0043others(10): Show | a0003c0020t0008a0005c0005t0015a0006c0043t0008others(10): Show | a0003c0020t0008g0143 a0005c0005t0015g0022 a0006c0043t0008g0159 others(13): Show |
16 | 316 | 0.0506 | 12 | c.*27 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2178 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58483529 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG01943.hp2 others(12): Show |
a0001a0002a0003others(8): Show | a0001c0002a0002c0001a0002c0016others(10): Show | a0001c0002t0002a0001c0002t0007a0002c0001t0001others(12): Show | a0001c0002t0002g0032 a0001c0002t0007g0075 a0002c0001t0001g0173 others(12): Show |
15 | 50 | 0.3000 | 12 | c.629 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58484752 | T | TATAATAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(74): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0014a0001c0023others(34): Show | a0001c0002t0003a0001c0014t0001a0001c0014t0020others(47): Show | a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0148 others(74): Show |
77 | 159 | 0.4843 | 12 | c.629 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58492146 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 NA20129.hp2 |
a0003a0013a0014 | a0003c0021a0013c0025a0014c0072 | a0003c0021t0006a0013c0025t0014a0014c0072t0003 | a0003c0021t0006g0066 a0013c0025t0014g0109 a0014c0072t0003g0161 |
3 | 165 | 0.0182 | 12 | c.629 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58521625 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01934.hp1 HG02055.hp2 others(6): Show |
a0001a0003a0006others(1): Show | a0001c0081a0003c0004a0003c0018others(4): Show | a0001c0081t0005a0003c0004t0003a0003c0018t0005others(5): Show | a0001c0081t0005g0269 a0003c0004t0003g0253 a0003c0018t0005g0144 others(6): Show |
9 | 273 | 0.0330 | 12 | c.566 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0019 | a0003c0019t0005 | a0003c0019t0005g0141 | 1 | 23 | 0.0435 | 12 | c.566 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58556169 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19043.hp2 |
a0035a0044 | a0035c0065a0044c0075 | a0035c0065t0011a0044c0075t0002 | a0035c0065t0011g0095 a0044c0075t0002g0046 |
2 | 267 | 0.0075 | 12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(81): Show |
a0001a0002a0003others(15): Show | a0001c0002a0002c0001a0003c0004others(21): Show | a0001c0002t0003a0001c0002t0004a0002c0001t0001others(41): Show | a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0004g0280 others(81): Show |
84 | 108 | 0.7778 | 12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58578731 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0016 | a0016c0030 | a0016c0030t0006 | a0016c0030t0006g0081 | 1 | 317 | 0.0032 | 12 | 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(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00741.hp2 others(33): Show |
a0003a0004a0009others(6): Show | a0003c0004a0003c0056a0004c0003others(8): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0004others(14): Show | a0003c0004t0001g0208 a0003c0004t0001g0235 a0003c0004t0002g0034 others(33): Show |
36 | 184 | 0.1957 | 12 | c.196 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629561 | T | TCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02896.hp1 |
a0008a0015 | a0008c0027a0015c0017 | a0008c0027t0010a0015c0017t0010 | a0008c0027t0010g0104 a0015c0017t0010g0105 |
2 | 305 | 0.0066 | 12 | c.-81 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 471 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0257 | 1 | 13 | 0.0769 | 12 | c.-82 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(5): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 NA18971.hp2 NA18972.hp1 others(1): Show |
a0002a0004a0012 | a0002c0001a0002c0016a0004c0003others(1): Show | a0002c0001t0001a0002c0016t0001a0004c0003t0004others(1): Show | a0002c0001t0001g0267 a0002c0016t0001g0303 a0004c0003t0004g0313 others(1): Show |
4 | 16 | 0.2500 | 12 | c.-82 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(38): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0128 a0001c0001t0001g0193 others(27): Show |
41 | 122 | 0.3361 | 12 | c.305 others(29): 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(5): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 58 | 0.0172 | 12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0009 a0001c0001t0005g0111 a0001c0001t0005g0131 others(3): Show |
8 | 186 | 0.0430 | 12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0080 | 1 | 179 | 0.0056 | 12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01361.hp1 others(4): Show |
a0003a0004a0006others(2): Show | a0003c0005a0004c0007a0006c0009others(2): Show | a0003c0005t0003a0004c0007t0024a0006c0009t0005others(2): Show | a0003c0005t0003g0017 a0003c0005t0003g0068 a0004c0007t0024g0071 others(3): Show |
7 | 185 | 0.0378 | 12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84877873 | A | AGATAGAT others(5): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 338 | 0.0030 | 12 | c.*94 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4395 | chr15 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21551719 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0222 a0001c0001t0004g0070 a0001c0001t0004g0089 |
3 | 87 | 0.0345 | 12 | c.-10 others(31): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554799 | G | GTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 336 | 0.0030 | 12 | c.61+ others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21576218 | T | TGATGGAT others(5): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 a0001c0001t0004g0093 a0001c0001t0004g0103 others(8): Show |
11 | 353 | 0.0312 | 12 | c.119 others(29): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005 others(2): Show |
11 | 270 | 0.0407 | 12 | c.*32 others(23): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 NA18973.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0004 a0002c0006t0001g0001 |
2 | 221 | 0.0090 | 12 | c.*33 others(23): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG03471.hp1 NA19240.hp2 |
a0002a0004 | a0002c0018a0004c0004 | a0002c0018t0001a0004c0004t0001 | a0002c0018t0001g0001 a0004c0004t0001g0002 |
3 | 222 | 0.0135 | 12 | c.*33 others(23): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGGA others(5): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 1 | 220 | 0.0045 | 12 | c.*33 others(23): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201706535 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 others(5): Show |
8 | 35 | 0.2286 | 12 | c.458 others(29): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201719590 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 152 | 0.0066 | 12 | c.370 others(31): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201758760 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 a0001c0001t0001g0263 |
2 | 27 | 0.0741 | 12 | c.111 others(31): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201764634 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0084 | 1 | 110 | 0.0091 | 12 | c.175 others(29): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85283309 | A | AAAAAAAT others(5): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 382 | 0.0026 | 12 | c.227 others(27): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293099 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18939.hp2 NA18954.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0006a0001c0005t0061 | a0001c0001t0004g0182 a0001c0005t0006g0183 a0001c0005t0061g0199 |
3 | 118 | 0.0254 | 12 | c.466 others(31): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44294828 | C | CTATTTAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0198 | 1 | 34 | 0.0294 | 12 | c.466 others(31): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar |