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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRV1_chr5_90553797_91169437 | 91014136 | C | CCCCACAC others(19): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0038 | a0038c0085 | a0038c0085t0002 | a0038c0085t0002g0084 | 1 | 24 | 0.0417 | 26 | c.181 others(49): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATAATAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0023 | a0023c0086 | a0023c0086t0001 | a0023c0086t0001g0069 | 1 | 47 | 0.0213 | 26 | c.181 others(49): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATATAAT others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03927.hp1 |
a0002a0019 | a0002c0095a0019c0014 | a0002c0095t0001a0019c0014t0001 | a0002c0095t0001g0074 a0019c0014t0001g0108 |
2 | 48 | 0.0417 | 26 | c.181 others(49): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 91035864 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 127 | 0.0079 | 26 | c.181 others(49): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 91060378 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0033a0072 | a0033c0058a0072c0044 | a0033c0058t0003a0072c0044t0003 | a0033c0058t0003g0060 a0072c0044t0003g0003 |
2 | 149 | 0.0134 | 26 | c.181 others(49): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03710.hp2 NA19002.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
5 | 81 | 0.0617 | 26 | c.195 others(45): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(7): Show |
10 | 86 | 0.1163 | 26 | c.195 others(45): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 77 | 0.0130 | 26 | c.195 others(45): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74280415 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0196 |
2 | 75 | 0.0267 | 26 | c.195 others(45): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74342779 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0023 |
2 | 100 | 0.0200 | 26 | c.273 others(45): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50919289 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0323 | 1 | 205 | 0.0049 | 26 | c.-90 others(43): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50919305 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0097 | 1 | 355 | 0.0028 | 26 | c.-90 others(43): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976098 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 174 | 0.0057 | 26 | c.*75 others(35): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 353 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976098 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 174 | 0.0057 | 26 | c.*75 others(35): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 353 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113408848 | A | AGGGGGCT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0003others(26): Show | a0001c0001t0043a0002c0002t0002a0002c0002t0003others(71): Show | a0001c0001t0043g0175 a0002c0002t0002g0092 a0002c0002t0002g0103 others(121): Show |
124 | 259 | 0.4788 | 26 | c.106 others(43): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159963288 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0050 others(20): Show |
23 | 231 | 0.0996 | 26 | c.950 others(43): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4231038 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02293.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0012a0002c0002t0004others(1): Show | a0001c0001t0001g0155 a0001c0001t0012g0154 a0002c0002t0004g0344 others(1): Show |
4 | 314 | 0.0127 | 26 | c.111 others(45): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231064 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0040 others(13): Show |
17 | 339 | 0.0501 | 26 | c.111 others(45): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231066 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0301 | 1 | 389 | 0.0026 | 26 | c.111 others(45): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADSL_chr22_40341500_40374367 | 40369432 | A | AAATATAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0037 others(1): Show |
6 | 300 | 0.0200 | 26 | c.*29 others(37): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 66 | chr22 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104729560 | G | GGTGGGGA others(19): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02451.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0008 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show |
4 | 243 | 0.0165 | 26 | c.192 others(43): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104729586 | G | GGTGGGGA others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 207 | 0.0048 | 26 | c.192 others(43): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104729716 | C | CGGGAGGA others(19): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18979.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0052 others(1): Show |
5 | 347 | 0.0144 | 26 | c.193 others(43): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244444514 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0291 | 1 | 74 | 0.0135 | 26 | c.184 others(43): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
AEBP2_chr12_19434492_19527227 | 19468126 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0378 | 1 | 104 | 0.0096 | 26 | c.880 others(43): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149307818 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01358.hp2 HG01928.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0202 a0001c0001t0001g0261 others(4): Show |
8 | 22 | 0.3636 | 26 | c.747 others(41): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | 45 | 0.1556 | 26 | c.316 others(43): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7827569 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01952.hp2 NA20300.hp2 |
a0002a0003a0004 | a0002c0005a0003c0013a0004c0018 | a0002c0005t0004a0003c0013t0005a0004c0018t0004 | a0002c0005t0004g0244 a0003c0013t0005g0232 a0004c0018t0004g0215 |
3 | 49 | 0.0612 | 26 | c.727 others(43): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 86985181 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02257.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0012 | a0001c0001t0001g0133 a0001c0001t0011g0266 a0001c0001t0012g0128 |
3 | 37 | 0.0811 | 26 | c.38+ others(43): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581448 | G | GTATACGT others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0047 | a0001c0001t0009g0112 a0001c0001t0047g0008 |
2 | 158 | 0.0127 | 26 | c.48- others(43): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581451 | T | TATACGTA others(19): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 154 | 0.0065 | 26 | c.48- others(43): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581508 | G | GTATACGT others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0128 | 1 | 164 | 0.0061 | 26 | c.48- others(43): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148762409 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0034a0001c0002t0038 | a0001c0001t0001g0101 a0001c0001t0034g0140 a0001c0002t0038g0098 |
3 | 149 | 0.0201 | 26 | c.104 others(47): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148762420 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02622.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0004g0111 a0001c0001t0005g0117 a0001c0001t0005g0118 others(3): Show |
6 | 147 | 0.0408 | 26 | c.104 others(47): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148903474 | A | ATATACTG others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0107 | 1 | 167 | 0.0060 | 26 | c.136 others(43): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99648905 | A | ACTCTCTC others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0004 | 1 | 93 | 0.0108 | 26 | c.118 others(43): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | NA18971.hp1 NA20300.hp2 |
a0003a0006 | a0003c0006a0006c0012 | a0003c0006t0006a0006c0012t0032 | a0003c0006t0006g0052 a0006c0012t0032g0090 |
2 | 20 | 0.1000 | 26 | c.118 others(43): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 19 | 0.0526 | 26 | c.118 others(43): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACTC others(19): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0046 | 1 | 19 | 0.0526 | 26 | c.118 others(43): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACTCTCTC others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 19 | 0.0526 | 26 | c.118 others(43): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFP_chr4_73431221_73461174 | 73459177 | G | GTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 NA18972.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0011 others(2): Show |
5 | 68 | 0.0735 | 26 | c.*35 others(37): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 3004 | chr4 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235536254 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0095 | 1 | 6 | 0.1667 | 26 | c.163 others(45): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235571932 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0074 | 1 | 20 | 0.0500 | 26 | c.163 others(45): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235573017 | T | TTCTTCTT others(19): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0094 | 1 | 92 | 0.0109 | 26 | c.163 others(45): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235702934 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0005a0001c0016t0007 | a0001c0001t0005g0012 a0001c0016t0007g0089 |
2 | 28 | 0.0714 | 26 | c.164 others(43): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235728320 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0040 | a0001c0005t0040g0006 | 1 | 98 | 0.0102 | 26 | c.310 others(45): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235867536 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0009a0001c0005t0001 | a0001c0003t0009g0096 a0001c0005t0001g0057 |
2 | 24 | 0.0833 | 26 | c.105 others(47): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 236098620 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 3 | 0.3333 | 26 | c.211 others(47): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151105792 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 44 | 0.0227 | 26 | c.332 others(45): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGA_chr4_177425774_177447437 | 177445119 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 440 | 0.0023 | 26 | c.-27 others(37): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 2683 | chr4 | TogoVar |