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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFAP1L1_chr5_149266859_149348637 | 149296554 | TAATTACC others(7): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0153 | 1 | 286 | 0.0035 | -14 | c.17- others(29): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149346715 | ATTTTTTT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0024a0001c0001t0004g0035a0001c0001t0004g0038others(14): Show | 18 | 286 | 0.0629 | -14 | c.*66 others(25): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 3079 | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114312234 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(110): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0040others(110): Show | 113 | 262 | 0.4313 | -14 | c.792 others(31): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 7/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114368767 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01168.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0149a0001c0001t0001g0198a0001c0002t0002g0003others(17): Show | 20 | 262 | 0.0763 | -14 | c.17- others(31): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114404630 | CCCCAGCG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0002 | a0002c0005a0002c0031 | a0002c0005t0003a0002c0031t0020 | a0002c0005t0003g0023a0002c0031t0020g0024 | 2 | 262 | 0.0076 | -14 | c.-18 others(23): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 129 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00735.hp2 others(14): Show |
a0001a0002a0003 | a0001c0026a0002c0005a0003c0006others(4): Show | a0001c0026t0005a0002c0005t0004a0003c0006t0005others(6): Show | a0001c0026t0005g0144a0002c0005t0004g0280a0003c0006t0005g0078others(14): Show | 17 | 318 | 0.0535 | -14 | c.126 others(33): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7874530 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0052others(7): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0282others(15): Show | 18 | 318 | 0.0566 | -14 | c.-2- others(29): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167844177 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 326 | 0.0031 | -14 | c.105 others(33): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFDN_chr6_167821911_167977023 | 167891404 | GGTGGGTG others(7): Show |
G | intron_variant | MODIFIER | NA18612.hp2 NA18943.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057a0001c0003t0001g0058 | 2 | 326 | 0.0061 | -14 | c.117 others(31): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFDN_chr6_167821911_167977023 | 167964614 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 326 | 0.0031 | -14 | c.496 others(33): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86985181 | CTATATAT others(7): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0025 | a0001c0001t0003g0002a0001c0001t0003g0006a0001c0001t0003g0007others(5): Show | 8 | 294 | 0.0272 | -14 | c.38+ others(31): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86998098 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0044others(4): Show | a0001c0001t0003g0192a0001c0002t0005g0193a0001c0002t0005g0194others(10): Show | 13 | 294 | 0.0442 | -14 | c.39- others(31): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87000605 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp2 HG02055.hp1 others(19): Show |
a0001a0016a0017 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0008a0001c0001t0011a0001c0001t0015others(11): Show | a0001c0001t0008g0112a0001c0001t0011g0094a0001c0001t0011g0265others(19): Show | 22 | 294 | 0.0748 | -14 | c.39- others(31): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87022580 | ATATCTAT others(7): Show |
A | intron_variant | MODIFIER | HG01517.hp2 NA18951.hp1 NA18981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0090a0001c0001t0002g0024a0001c0001t0002g0051others(3): Show | 6 | 294 | 0.0204 | -14 | c.39- others(31): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87060835 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0027a0001c0003t0028others(1): Show | a0001c0001t0028g0257a0001c0003t0027g0186a0001c0003t0027g0188others(2): Show | 5 | 294 | 0.0170 | -14 | c.105 others(35): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87073280 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0008 | a0008c0027 | a0008c0027t0003 | a0008c0027t0003g0045 | 1 | 294 | 0.0034 | -14 | c.106 others(35): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148560695 | CTGATTTT others(7): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0045 | a0003c0008t0045g0010 | 1 | 169 | 0.0059 | -14 | c.47+ others(31): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148897259 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | NA18953.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0168a0001c0001t0015g0032 | 2 | 169 | 0.0118 | -14 | c.136 others(33): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99618224 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01261.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0023others(1): Show | a0002c0002t0002g0021a0002c0002t0002g0028a0002c0002t0002g0030others(4): Show | 7 | 100 | 0.0700 | -14 | c.118 others(35): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99655213 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA20300.hp2 |
a0001a0003 | a0001c0008a0003c0006 | a0001c0008t0005a0003c0006t0006 | a0001c0008t0005g0079a0003c0006t0006g0052 | 2 | 100 | 0.0200 | -14 | c.114 others(33): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 12/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99778895 | CGCGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0005 | 1 | 100 | 0.0100 | -14 | c.922 others(33): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99882061 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 100 | 0.0100 | -14 | c.874 others(33): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99946473 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0007 | 1 | 100 | 0.0100 | -14 | c.873 others(33): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 100056927 | CAATAAGT others(7): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0080a0001c0001t0004g0050a0001c0001t0006g0076others(5): Show | 8 | 100 | 0.0800 | -14 | c.53+ others(31): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132908623 | AGAACTGT others(7): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 392 | 0.0026 | -14 | c.105 others(33): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132916238 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0311 | 1 | 392 | 0.0026 | -14 | c.105 others(35): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132936266 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 392 | 0.0026 | -14 | c.123 others(29): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 2/20 | chr5 | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132957019 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303a0001c0001t0001g0309 | 2 | 392 | 0.0051 | -14 | c.-5+ others(29): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
AFG3L2_chr18_12323944_12382227 | 12381298 | TAAAAAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0194a0001c0001t0004g0021 | 2 | 376 | 0.0053 | -14 | c.-42 others(25): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 4072 | chr18 | TogoVar | ||||||
AFTPH_chr2_64519328_64598005 | 64549308 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 372 | 0.0027 | -14 | c.-32 others(31): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64550677 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01943.hp2 HG02027.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0222a0001c0001t0004g0001others(19): Show | 23 | 372 | 0.0618 | -14 | c.-32 others(29): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64576074 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01496.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0008a0001c0001t0004g0053 | 2 | 372 | 0.0054 | -14 | c.239 others(33): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235489345 | TCACACAC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0034a0001c0001t0003g0036a0001c0001t0005g0007others(6): Show | 9 | 98 | 0.0918 | -14 | c.-53 others(25): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 4697 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235521738 | ATATATGT others(7): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0046a0002c0004t0045 | a0001c0006t0046g0040a0002c0004t0045g0039 | 2 | 98 | 0.0204 | -14 | c.163 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235536627 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01168.hp1 HG02083.hp1 |
a0001a0002 | a0001c0001a0002c0004a0002c0007 | a0001c0001t0008a0002c0004t0029a0002c0007t0008 | a0001c0001t0008g0069a0002c0004t0029g0083a0002c0007t0008g0011 | 3 | 98 | 0.0306 | -14 | c.163 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235629268 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01358.hp1 HG02083.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(14): Show | a0001c0001t0002g0046a0001c0001t0007g0008a0001c0001t0011g0098others(17): Show | 20 | 98 | 0.2041 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235651184 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01928.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0006a0001c0002t0042others(4): Show | a0001c0001t0003g0036a0001c0001t0003g0063a0001c0002t0006g0093others(5): Show | 8 | 98 | 0.0816 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235653464 | CAAAAATA others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0044 | a0001c0001t0011g0020a0001c0001t0044g0041 | 2 | 98 | 0.0204 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235677906 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01192.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0019a0001c0002t0001others(6): Show | a0001c0001t0002g0002a0001c0001t0019g0065a0001c0002t0001g0004others(8): Show | 11 | 98 | 0.1122 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235686550 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA20300.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0011a0001c0001t0044a0002c0020t0001 | a0001c0001t0011g0020a0001c0001t0044g0041a0002c0020t0001g0022 | 3 | 98 | 0.0306 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235686614 | GATATAGA others(7): Show |
G | intron_variant | MODIFIER | HG01358.hp1 HG03098.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0044a0001c0002t0001a0001c0002t0038others(3): Show | a0001c0001t0044g0041a0001c0002t0001g0030a0001c0002t0038g0086others(3): Show | 6 | 98 | 0.0612 | -14 | c.164 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 236038819 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0059 | 1 | 98 | 0.0102 | -14 | c.180 others(33): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 236097380 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0044others(3): Show | a0001c0001t0003g0034a0001c0001t0003g0090a0001c0001t0005g0007others(4): Show | 7 | 98 | 0.0714 | -14 | c.211 others(35): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP3_chr7_151081475_151149434 | 151084842 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0171 | 1 | 354 | 0.0028 | -14 | c.-18 others(25): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1632 | chr7 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151087748 | CGCACCCG others(7): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0003t0006others(2): Show | a0001c0001t0002g0333a0001c0001t0002g0335a0001c0001t0006g0337others(6): Show | 9 | 354 | 0.0254 | -14 | c.331 others(29): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGAP6_chr10_49983406_50015499 | 50009462 | TGCAGTCA others(7): Show |
T | frameshift_variant | HIGH | NA18952.hp1 NA18962.hp1 NA19004.hp2 |
a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0001 | 3 | 406 | 0.0074 | -14 | c.134 others(23): Show |
p.Ser others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1653/2684 | 1343/2061 | 448/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AGAP9_chr10_47496854_47528638 | 47503937 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show |
a0000a0002 | a0000c0026a0002c0002a0002c0027 | a0000c0026t0002a0002c0002t0002a0002c0027t0002 | a0000c0026t0002g0167a0002c0002t0002g0004a0002c0002t0002g0169others(7): Show | 12 | 206 | 0.0583 | -14 | c.585 others(29): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 7/7 | chr10 | TogoVar | ||||||
AGAP9_chr10_47496854_47528638 | 47504846 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA18955.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0111 | 2 | 206 | 0.0097 | -14 | c.534 others(29): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 6/7 | chr10 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86127543 | CCACGTGG others(7): Show |
C | intron_variant | MODIFIER | HG02630.hp2 NA18522.hp1 |
a0001a0003 | a0001c0010a0003c0029 | a0001c0010t0015a0003c0029t0018 | a0001c0010t0015g0009a0003c0029t0018g0007 | 2 | 132 | 0.0152 | -14 | c.52- others(31): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86184422 | CTTTTTTC others(7): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 132 | 0.0076 | -14 | c.488 others(33): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |