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 | 99271693 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 44 | 0.0227 | 19 | c.175 others(40): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99333854 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0044 | 1 | 21 | 0.0476 | 19 | c.175 others(40): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | |||||||
ANKS3_chr16_4691511_4739271 | 4714990 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0002c0004t0006 | a0001c0001t0008g0331 a0002c0004t0006g0022 a0002c0004t0006g0338 |
4 | 169 | 0.0237 | 19 | c.574 others(34): Show |
ANKS3 | ENSG00000168096.15 | transcript | ENST00000304283.9 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ANKS6_chr9_98727009_98801555 | 98739758 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18991.hp2 |
a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0284 a0004c0007t0010g0286 |
2 | 99 | 0.0202 | 19 | c.251 others(38): Show |
ANKS6 | ENSG00000165138.18 | transcript | ENST00000353234.5 | protein_coding | 14/14 | chr9 | TogoVar | |||||||
ANO10_chr3_43360848_43627011 | 43432944 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 26 | 0.0385 | 19 | c.179 others(36): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 11/12 | chr3 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70192538 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0176 | 1 | 256 | 0.0039 | 19 | c.*45 others(30): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 3009 | chr11 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5610983 | T | TTTTTTTG others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0025 a0002c0003t0002g0147 |
2 | 133 | 0.0150 | 19 | c.208 others(38): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 19/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5902694 | G | GGGGGGAG others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0074 | 1 | 160 | 0.0063 | 19 | c.534 others(38): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26658124 | C | CATTTTGA others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(90): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0011others(22): Show | a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 others(90): Show |
93 | 188 | 0.4947 | 19 | c.276 others(38): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101080865 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0138 others(3): Show |
6 | 174 | 0.0345 | 19 | c.139 others(38): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45255818 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02622.hp2 others(3): Show |
a0001a0011 | a0001c0001a0001c0007a0011c0013 | a0001c0001t0003a0001c0007t0013a0011c0013t0003 | a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 others(3): Show |
6 | 32 | 0.1875 | 19 | c.70+ others(36): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANOS1_chrX_8523874_8737137 | 8610033 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01258.hp1 HG01346.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0003 | a0001c0001t0002g0193 a0002c0002t0002g0165 a0002c0002t0003g0164 |
3 | 194 | 0.0155 | 19 | c.319 others(38): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 3/13 | chrX | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79897165 | G | GAGGGAGG others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG01257.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0028a0001c0001t0029a0001c0001t0044others(9): Show | a0001c0001t0028g0071 a0001c0001t0029g0123 a0001c0001t0029g0124 others(17): Show |
20 | 263 | 0.0760 | 19 | c.*10 others(32): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 3980 | chr4 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168182318 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0238 a0001c0003t0001g0023 |
2 | 4 | 0.5000 | 19 | c.783 others(34): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349814 | A | AGGAAGGA others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0100 a0001c0003t0001g0129 a0001c0003t0001g0134 others(1): Show |
4 | 325 | 0.0123 | 19 | c.838 others(34): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60368316 | A | AAAATAAA others(12): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 175 | 0.0057 | 19 | c.149 others(36): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
ANXA3_chr4_78546770_78615447 | 78578330 | A | AGAGAGAG others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0276 |
2 | 306 | 0.0065 | 19 | c.104 others(34): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73416109 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 45 | 0.0222 | 19 | c.-21 others(30): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 2052 | chr10 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36543947 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 18 | 0.0556 | 19 | c.113 others(38): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00673.hp1 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(7): Show | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 others(43): Show |
46 | 127 | 0.3622 | 19 | c.45+ others(34): 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(12): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 242 | 0.0041 | 19 | c.317 others(36): 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(12): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18948.hp1 NA19057.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0227 a0001c0001t0001g0264 a0001c0001t0001g0320 others(1): Show |
4 | 245 | 0.0163 | 19 | c.317 others(36): 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(12): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0224 | 1 | 88 | 0.0114 | 19 | c.317 others(36): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 a0001c0002t0002g0175 |
2 | 10 | 0.2000 | 19 | c.*25 others(30): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02280.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 others(3): Show |
8 | 261 | 0.0307 | 19 | c.427 others(36): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0187 | 1 | 2 | 0.5000 | 19 | c.67+ others(34): 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(12): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02056.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0016g0046 |
3 | 131 | 0.0229 | 19 | c.68- others(36): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 998323 | A | ACCCGCCC others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01109.hp2 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0027 others(59): Show |
62 | 264 | 0.2348 | 19 | c.195 others(38): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 999268 | A | ACACTGTA others(12): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 266 | 0.0038 | 19 | c.195 others(38): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35703834 | A | AAGTAAAT others(12): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 28 | 0.0357 | 19 | c.245 others(38): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35703834 | A | AAGTTAAA others(12): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 28 | 0.0357 | 19 | c.245 others(38): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 194 | 0.0052 | 19 | c.278 others(38): 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(12): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 346 | 0.0029 | 19 | c.278 others(38): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78126504 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 58 | 0.0172 | 19 | c.196 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 116 | 0.0086 | 19 | c.165 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 111 | 0.0090 | 19 | c.787 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02602.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0177 others(1): Show |
4 | 114 | 0.0351 | 19 | c.787 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 111 | 0.0090 | 19 | c.787 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(31): Show |
a0001a0004a0006 | a0001c0001a0001c0006a0001c0019others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0019t0001others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0142 a0001c0001t0001g0172 others(31): Show |
34 | 37 | 0.9189 | 19 | c.113 others(36): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 172 | 0.0058 | 19 | c.804 others(34): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 117 | 0.0085 | 19 | c.-25 others(30): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0301 a0001c0001t0005g0336 |
2 | 136 | 0.0147 | 19 | c.185 others(38): 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(12): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 179 | 0.0056 | 19 | c.-71 others(38): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083494 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0133 | 1 | 344 | 0.0029 | 19 | c.306 others(36): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 111 | 0.0090 | 19 | c.306 others(36): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 229 | 0.0044 | 19 | c.*73 others(30): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18993.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0005g0067 |
3 | 245 | 0.0122 | 19 | c.526 others(36): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 119 | 0.0084 | 19 | c.526 others(36): 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(12): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19009.hp1 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0005g0049 |
3 | 121 | 0.0248 | 19 | c.526 others(36): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0176 | 1 | 214 | 0.0047 | 19 | c.956 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |