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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKS1B_chr12_98738974_99989936 | 98967631 | A | AGAGGGGA others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG02258.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0007 a0001c0001t0003g0020 a0001c0001t0004g0005 others(13): Show |
16 | 30 | 0.5333 | 25 | c.277 others(46): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 17/26 | chr12 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99667353 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0040 | 1 | 28 | 0.0357 | 25 | c.112 others(46): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 8/26 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5562500 | A | AAGGAGAG others(18): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01109.hp2 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0084 others(14): Show |
17 | 31 | 0.5484 | 25 | c.*77 others(34): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 154 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5902810 | A | AGGGAGGG others(18): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 105 | 0.0095 | 25 | c.534 others(44): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26544251 | C | CACATATA others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0141 | 1 | 67 | 0.0149 | 25 | c.115 others(44): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26586503 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04228.hp2 NA19240.hp2 |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0010a0001c0006t0010a0001c0007t0003 | a0001c0005t0010g0008 a0001c0006t0010g0073 a0001c0007t0003g0061 |
3 | 33 | 0.0909 | 25 | c.144 others(46): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45255818 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 27 | 0.0370 | 25 | c.70+ others(42): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45336399 | C | CTTATTTA others(18): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02809.hp2 others(3): Show |
a0001a0007a0008 | a0001c0003a0007c0015a0008c0009 | a0001c0003t0001a0001c0003t0005a0007c0015t0005others(1): Show | a0001c0003t0001g0011 a0001c0003t0001g0015 a0001c0003t0005g0010 others(3): Show |
6 | 232 | 0.0259 | 25 | c.279 others(42): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69219422 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 200 | 0.0050 | 25 | c.143 others(46): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | chr2 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 80015853 | C | CAGGAAAG others(18): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0124 | 1 | 214 | 0.0047 | 25 | c.945 others(42): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69794522 | A | ATTATGTT others(18): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 94 | 0.0106 | 25 | c.97+ others(40): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517206 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0041 | 1 | 282 | 0.0035 | 25 | c.160 others(44): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36679544 | T | TTATACAT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(219): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(219): Show |
222 | 292 | 0.7603 | 25 | c.224 others(42): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOC2_chr17_42839580_42855707 | 42848065 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 187 | 0.0053 | 25 | c.158 others(43): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42848065 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0008 | 1 | 186 | 0.0054 | 25 | c.-32 others(36): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 3133 | chr17 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 95091767 | A | AATAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 180 | 0.0056 | 25 | c.*50 others(36): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4609 | chr9 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 82 | 0.0122 | 25 | c.45+ others(40): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00673.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 others(7): Show |
10 | 251 | 0.0398 | 25 | c.317 others(42): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29349589 | C | CTGGGCAA others(18): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0302 | 1 | 376 | 0.0027 | 25 | c.127 others(42): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 10/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71758579 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0282 | 1 | 318 | 0.0031 | 25 | c.108 others(42): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 11/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16197975 | T | TCGCTGCC others(18): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(149): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(74): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(137): Show |
152 | 305 | 0.4984 | 25 | c.-43 others(32): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/12 | 18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16198008 | G | GCCGCCAC others(18): Show |
5_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0064 | 1 | 306 | 0.0033 | 25 | c.-19 others(32): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/12 | 18 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16208814 | A | ATTGGCTT others(18): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 306 | 0.0033 | 25 | c.399 others(40): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(11): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0012a0001c0005t0002 | a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0091 others(11): Show |
14 | 22 | 0.6364 | 25 | c.*25 others(36): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02155.hp2 NA18990.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0003g0002 others(2): Show |
5 | 258 | 0.0194 | 25 | c.427 others(42): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GGAAGAAA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01261.hp2 HG02015.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0048 | a0001c0001t0007g0023 a0001c0001t0007g0028 a0001c0001t0007g0069 others(11): Show |
14 | 314 | 0.0446 | 25 | c.*23 others(36): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223775014 | T | TTCAGAAA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(251): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(250): Show |
254 | 338 | 0.7515 | 25 | c.291 others(40): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19002.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0003 | a0001c0002t0002g0248 a0001c0005t0003g0144 |
2 | 3 | 0.6667 | 25 | c.67+ others(40): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 993808 | C | CACCCGCG others(18): Show |
frameshift_variant | HIGH | NA18994.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0261 | 1 | 265 | 0.0038 | 25 | c.160 others(34): Show |
p.Ile others(5): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1785/4587 | 1633/2820 | 545/939 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAGAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 HG02165.hp2 HG03453.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(6): Show |
10 | 192 | 0.0521 | 25 | c.*50 others(36): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 84 | 0.0119 | 25 | c.267 others(40): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78279907 | A | AATATATA others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02723.hp1 |
a0001a0006 | a0001c0006a0006c0014 | a0001c0006t0001a0006c0014t0002 | a0001c0006t0001g0223 a0006c0014t0002g0196 |
2 | 99 | 0.0202 | 25 | c.129 others(44): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74149267 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0214 | 1 | 44 | 0.0227 | 25 | c.-4+ others(40): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115848152 | C | CTTTAGCA others(18): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0209 others(12): Show |
15 | 376 | 0.0399 | 25 | c.69+ others(40): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0357 a0001c0001t0005g0339 |
2 | 136 | 0.0147 | 25 | c.185 others(44): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 179 | 0.0056 | 25 | c.-71 others(44): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0229 | 1 | 111 | 0.0090 | 25 | c.306 others(42): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57300718 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0005 | a0004c0005t0026 | a0004c0005t0026g0097 | 1 | 6 | 0.1667 | 25 | c.*11 others(38): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 229 | 0.0044 | 25 | c.*73 others(36): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4779378 | C | CATATAAC others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0002a0001c0001t0006a0001c0025t0006 | a0001c0001t0002g0010 a0001c0001t0006g0010 a0001c0025t0006g0010 |
4 | 316 | 0.0127 | 25 | c.42- others(40): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4789432 | G | GCCCCCCA others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 337 | 0.0030 | 25 | c.170 others(42): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 119 | 0.0084 | 25 | c.526 others(42): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 119 | 0.0084 | 25 | c.526 others(42): 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(18): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 119 | 0.0084 | 25 | c.526 others(42): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183 | 1 | 214 | 0.0047 | 25 | c.956 others(40): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTCC others(18): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0014 | a0002c0014t0035 | a0002c0014t0035g0191 | 1 | 11 | 0.0909 | 25 | c.951 others(42): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 HG03540.hp1 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0002 | a0001c0001t0001g0107 a0001c0001t0001g0239 a0007c0007t0002g0308 |
3 | 28 | 0.1071 | 25 | c.813 others(42): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26524955 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG02074.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0138 a0001c0001t0008g0336 |
2 | 118 | 0.0169 | 25 | c.814 others(42): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26524955 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02148.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0002 | a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0076 others(4): Show |
7 | 123 | 0.0569 | 25 | c.814 others(42): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40964753 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 7 | 0.1429 | 25 | c.836 others(44): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar |