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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 370 | 0.0027 | 15 | c.317 others(32): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0209 | 1 | 370 | 0.0027 | 15 | c.317 others(32): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1G1_chr16_71724000_71813834 | 71736098 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18951.hp1 NA18968.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0276a0001c0001t0002g0290a0001c0001t0011g0199others(1): Show | 4 | 320 | 0.0125 | 15 | c.226 others(34): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 320 | 0.0031 | 15 | c.226 others(34): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0301a0001c0001t0002g0305a0001c0001t0011g0235 | 3 | 320 | 0.0094 | 15 | c.226 others(34): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71809206 | A | AGGGGGTA others(8): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 320 | 0.0031 | 15 | c.-46 others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 373 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02080.hp2 HG02735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0128others(2): Show | a0001c0001t0004g0226a0001c0001t0008g0228a0001c0001t0008g0263others(4): Show | 7 | 308 | 0.0227 | 15 | c.546 others(32): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTGT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0174a0001c0001t0176a0001c0002t0016others(11): Show | a0001c0001t0174g0080a0001c0001t0176g0053a0001c0002t0016g0126others(15): Show | 18 | 308 | 0.0584 | 15 | c.*10 others(28): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02056.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008a0001c0002t0002g0171 | 2 | 394 | 0.0051 | 15 | c.*25 others(26): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585288 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 394 | 0.0025 | 15 | c.43- others(30): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 318 | 0.0031 | 15 | c.427 others(32): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18959.hp1 NA18975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0136a0001c0001t0001g0162a0001c0001t0001g0167others(2): Show | 5 | 318 | 0.0157 | 15 | c.427 others(32): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GGAAGAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0047 | a0001c0001t0024g0042a0001c0001t0024g0054a0001c0001t0047g0322 | 3 | 340 | 0.0088 | 15 | c.*23 others(26): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0265 | 1 | 268 | 0.0037 | 15 | c.67+ others(30): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 946770 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0046a0001c0002t0004g0236a0001c0002t0004g0255 | 3 | 268 | 0.0112 | 15 | c.68- others(32): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 997587 | C | CTTTCCTA others(8): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 268 | 0.0037 | 15 | c.195 others(34): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 372 | 0.0027 | 15 | c.278 others(34): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 372 | 0.0027 | 15 | c.278 others(34): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184187217 | A | AGTTTTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 422 | 0.0024 | 15 | c.*36 others(26): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3127 | chr3 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833424 | G | GGAGAAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 424 | 0.0024 | 15 | c.*50 others(26): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4742 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAGAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01255.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0141others(15): Show | 20 | 424 | 0.0472 | 15 | c.*50 others(26): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78023439 | C | CAAGAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0002 | a0001c0001t0002g0016a0001c0004t0002g0007a0001c0004t0002g0085others(2): Show | 5 | 226 | 0.0221 | 15 | c.289 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78144829 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | 226 | 0.0089 | 15 | c.147 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78189869 | C | CAAATAAA others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02602.hp2 NA18990.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0049a0002c0003t0001g0053a0002c0003t0001g0065others(1): Show | 4 | 226 | 0.0177 | 15 | c.787 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 226 | 0.0044 | 15 | c.787 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00741.hp2 others(11): Show |
a0001a0004 | a0001c0002a0004c0017 | a0001c0002t0001a0001c0002t0002a0004c0017t0002 | a0001c0002t0001g0182a0001c0002t0002g0064a0001c0002t0002g0130others(11): Show | 14 | 226 | 0.0620 | 15 | c.787 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | 226 | 0.0089 | 15 | c.787 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG03654.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | 226 | 0.0089 | 15 | c.787 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78223027 | C | CTCTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(42): Show | 45 | 226 | 0.1991 | 15 | c.603 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0001a0003a0007 | a0001c0001a0001c0014a0003c0004others(1): Show | a0001c0001t0001a0001c0014t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0082a0001c0001t0001g0096others(39): Show | 42 | 368 | 0.1141 | 15 | c.113 others(32): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74137239 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18994.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0229a0001c0001t0003g0244 | 4 | 334 | 0.0120 | 15 | c.274 others(30): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 392 | 0.0026 | 15 | c.804 others(30): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115845836 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 378 | 0.0027 | 15 | c.69+ others(30): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50938653 | G | GATCACCT others(8): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 392 | 0.0026 | 15 | c.944 others(32): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 8/20 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962017 | A | AAATACAA others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02004.hp1 HG02109.hp1 others(8): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0002c0003t0006a0003c0004t0007others(1): Show | a0002c0003t0003g0029a0002c0003t0003g0030a0002c0003t0006g0188others(8): Show | 11 | 392 | 0.0281 | 15 | c.185 others(34): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp2 HG03139.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0004a0001c0001t0005a0001c0001t0029others(1): Show | a0001c0001t0004g0354a0001c0001t0005g0303a0001c0001t0005g0321others(2): Show | 5 | 392 | 0.0128 | 15 | c.185 others(34): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50977706 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0322a0001c0001t0029g0304 | 2 | 392 | 0.0051 | 15 | c.196 others(34): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50990344 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0009a0002c0002t0002others(10): Show | a0001c0001t0005g0303a0001c0001t0005g0322a0001c0001t0009g0319others(73): Show | 76 | 392 | 0.1939 | 15 | c.209 others(34): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4M1_chr7_100096643_100114039 | 100099418 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020a0001c0001t0003g0069 | 2 | 416 | 0.0048 | 15 | c.-22 others(26): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 346 | 0.0029 | 15 | c.-71 others(34): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 346 | 0.0029 | 15 | c.-71 others(34): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0186 | 1 | 346 | 0.0029 | 15 | c.-71 others(34): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018 | a0001c0001t0012g0199a0001c0001t0018g0205 | 2 | 346 | 0.0058 | 15 | c.306 others(32): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4796849 | G | GTCTCTAC others(8): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007a0001c0002t0003g0073 | 3 | 340 | 0.0088 | 15 | c.*54 others(26): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 2453 | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653685 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 366 | 0.0027 | 15 | c.526 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653687 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 366 | 0.0027 | 15 | c.526 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0083a0001c0001t0009g0084 | 2 | 366 | 0.0055 | 15 | c.526 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 366 | 0.0027 | 15 | c.526 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02738.hp1 HG03195.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0012a0001c0001t0001g0059a0001c0001t0001g0061others(6): Show | 9 | 366 | 0.0246 | 15 | c.526 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 366 | 0.0027 | 15 | c.956 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |