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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO6_chr12_45211095_45437349 | 45255818 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 27 | 0.0370 | 21 | c.70+ others(38): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO7_chr2_241183677_241230976 | 241218158 | C | CAGCGGGG others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01358.hp2 others(33): Show |
a0001a0003a0012others(2): Show | a0001c0003a0003c0004a0003c0011others(3): Show | a0001c0003t0014a0003c0004t0002a0003c0004t0010others(8): Show | a0001c0003t0014g0057 a0003c0004t0002g0004 a0003c0004t0002g0262 others(29): Show |
36 | 267 | 0.1348 | 21 | c.217 others(36): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168156171 | T | TTATATTA others(14): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 NA18970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 a0002c0002t0001g0163 a0002c0002t0001g0235 |
3 | 179 | 0.0168 | 21 | c.196 others(38): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43044121 | A | ATATTATA others(14): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 288 | 0.0035 | 21 | c.-40 others(32): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3803 | chr5 | TogoVar | |||||||
ANXA3_chr4_78546770_78615447 | 78578330 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0200 |
2 | 306 | 0.0065 | 21 | c.104 others(36): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
ANXA3_chr4_78546770_78615447 | 78593625 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0006 | a0002c0003t0004g0060 a0002c0003t0004g0061 a0002c0003t0004g0149 others(2): Show |
6 | 298 | 0.0201 | 21 | c.484 others(38): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69775991 | T | TTATTTAT others(14): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0029 | 1 | 344 | 0.0029 | 21 | c.-46 others(38): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69785551 | T | TTGATGAT others(14): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02280.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0173 a0001c0001t0011g0128 a0001c0001t0011g0208 |
3 | 164 | 0.0183 | 21 | c.10- others(36): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69830305 | G | GGGGGGGC others(14): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 344 | 0.0029 | 21 | c.*47 others(32): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3194 | chr2 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36517206 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0073 a0001c0003t0001g0253 a0002c0002t0001g0192 |
3 | 284 | 0.0106 | 21 | c.160 others(40): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36517214 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 116 | 0.0086 | 21 | c.160 others(40): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94743193 | A | AGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 100 | 0.0100 | 21 | c.-13 others(42): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94743235 | A | AGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0005 | 1 | 180 | 0.0056 | 21 | c.-13 others(42): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94765439 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0144 a0010c0010t0001g0145 |
2 | 42 | 0.0476 | 21 | c.797 others(38): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 82 | 0.0122 | 21 | c.45+ others(36): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01496.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0268 a0001c0001t0001g0269 others(11): Show |
15 | 96 | 0.1563 | 21 | c.45+ others(36): 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(14): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18963.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0348 |
3 | 244 | 0.0123 | 21 | c.317 others(38): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18945.hp1 NA18980.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0280 a0001c0001t0001g0311 a0001c0001t0001g0322 others(3): Show |
6 | 247 | 0.0243 | 21 | c.317 others(38): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0248 | 1 | 88 | 0.0114 | 21 | c.317 others(38): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(14): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 246 | 0.0041 | 21 | c.546 others(38): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215210 | G | GGGGGGGG others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0241 | 1 | 294 | 0.0034 | 21 | c.546 others(38): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215223 | G | GGGGGGGG others(14): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0170 | 1 | 306 | 0.0033 | 21 | c.546 others(38): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0002g0083 others(3): Show |
6 | 14 | 0.4286 | 21 | c.*25 others(32): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0106 |
2 | 255 | 0.0078 | 21 | c.427 others(38): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832363 | A | AAACAAAC others(14): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0172 | 1 | 338 | 0.0030 | 21 | c.3+5 others(34): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0188 | 1 | 2 | 0.5000 | 21 | c.67+ others(36): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 194 | 0.0052 | 21 | c.278 others(40): 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(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0293 | 1 | 346 | 0.0029 | 21 | c.278 others(40): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35727022 | C | CGCCAAGC others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0021 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0132 others(22): Show |
27 | 370 | 0.0730 | 21 | c.*33 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 610 | chr17 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833431 | A | AGAAGAGA others(14): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 422 | 0.0024 | 21 | c.*50 others(32): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4735 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78126504 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0142 | 1 | 58 | 0.0172 | 21 | c.196 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 111 | 0.0090 | 21 | c.787 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0137 | 1 | 111 | 0.0090 | 21 | c.787 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0157 | 1 | 111 | 0.0090 | 21 | c.787 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78279907 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(17): Show |
20 | 117 | 0.1709 | 21 | c.129 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0052 others(26): Show |
30 | 33 | 0.9091 | 21 | c.113 others(38): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42160005 | G | GGAAAGAT others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 390 | 0.0026 | 21 | c.445 others(38): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAGAGA others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 227 | 0.0044 | 21 | c.345 others(40): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0359 a0001c0001t0009g0319 a0001c0001t0009g0320 |
3 | 137 | 0.0219 | 21 | c.185 others(40): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03710.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0017a0002c0003t0006 | a0002c0002t0017g0055 a0002c0003t0006g0186 |
2 | 79 | 0.0253 | 21 | c.185 others(40): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | chr15 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0002 a0001c0001t0031g0010 |
2 | 230 | 0.0087 | 21 | c.*73 others(32): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0009 | 1 | 229 | 0.0044 | 21 | c.*73 others(32): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98643812 | G | GTTTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 324 | 0.0031 | 21 | c.-20 others(32): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 1477 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653687 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 309 | 0.0032 | 21 | c.526 others(38): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 119 | 0.0084 | 21 | c.526 others(38): 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(14): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 119 | 0.0084 | 21 | c.526 others(38): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665279 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01258.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0131 a0001c0001t0004g0181 |
2 | 356 | 0.0056 | 21 | c.956 others(36): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | chr12 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28908315 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02976.hp1 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0029a0002c0002t0007others(1): Show | a0001c0001t0004g0045 a0001c0001t0029g0046 a0002c0002t0007g0115 others(1): Show |
4 | 175 | 0.0229 | 21 | c.-20 others(42): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28949063 | T | TGAGGAGA others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0188 | 1 | 202 | 0.0050 | 21 | c.-95 others(40): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0112 a0001c0001t0001g0128 others(4): Show |
7 | 32 | 0.2188 | 21 | c.813 others(38): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |