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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AEBP2_chr12_19434492_19527227 | 19505337 | TTAAGGTG others(7): Show |
T | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 402 | 0.0025 | -14 | c.129 others(33): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
AFAP1L1_chr5_149266859_149348637 | 149296554 | TAATTACC others(7): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0151 | 1 | 284 | 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 |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0003 a0001c0001t0004g0028 a0001c0001t0004g0037 others(13): Show |
18 | 74 | 0.2432 | -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 | a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
113 | 121 | 0.9339 | -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(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0091 a0001c0001t0001g0140 a0001c0002t0002g0003 others(16): Show |
19 | 22 | 0.8636 | -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 | a0002c0005t0003g0023 a0002c0031t0020g0024 |
2 | 260 | 0.0077 | -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 | a0001c0026t0005g0144 a0002c0005t0004g0279 a0003c0006t0005g0078 others(14): Show |
17 | 36 | 0.4722 | -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(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0052others(7): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0281 others(14): Show |
17 | 49 | 0.3469 | -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 | a0001c0001t0002g0227 | 1 | 74 | 0.0135 | -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 | a0001c0003t0001g0057 a0001c0003t0001g0058 |
2 | 118 | 0.0169 | -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 | a0001c0001t0002g0240 | 1 | 88 | 0.0114 | -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 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(5): Show |
8 | 42 | 0.1905 | -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 |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0043others(4): Show | a0001c0001t0003g0192 a0001c0002t0005g0193 a0001c0002t0005g0194 others(10): Show |
13 | 26 | 0.5000 | -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 |
a0001a0007a0017 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0008a0001c0001t0011a0001c0001t0015others(11): Show | a0001c0001t0008g0112 a0001c0001t0011g0096 a0001c0001t0011g0265 others(19): Show |
22 | 30 | 0.7333 | -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 | a0001c0001t0001g0091 a0001c0001t0002g0026 a0001c0001t0002g0044 others(3): Show |
6 | 263 | 0.0228 | -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 | a0001c0001t0028g0257 a0001c0003t0027g0186 a0001c0003t0027g0187 others(2): Show |
5 | 171 | 0.0292 | -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 | a0015 | a0015c0027 | a0015c0027t0003 | a0015c0027t0003g0047 | 1 | 15 | 0.0667 | -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 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 167 | 0.0060 | -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 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0168 a0001c0001t0002g0031 |
2 | 167 | 0.0120 | -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 | a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0030 others(4): Show |
7 | 39 | 0.1795 | -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 | a0001c0008t0005g0079 a0003c0006t0006g0052 |
2 | 11 | 0.1818 | -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 | 41 | 0.0244 | -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 | 98 | 0.0102 | -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 | a0002c0007t0008g0006 | 1 | 3 | 0.3333 | -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 | a0001c0001t0001g0080 a0001c0001t0004g0050 a0001c0001t0006g0076 others(5): Show |
8 | 98 | 0.0816 | -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 | a0001c0001t0004g0241 | 1 | 390 | 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 | a0001c0001t0006g0282 | 1 | 123 | 0.0081 | -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 | a0001c0001t0001g0145 | 1 | 101 | 0.0099 | -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 | a0001c0001t0001g0270 a0001c0001t0001g0278 |
2 | 85 | 0.0235 | -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 | a0001c0001t0001g0194 a0001c0001t0004g0021 |
2 | 54 | 0.0370 | -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 | a0001c0001t0001g0159 | 1 | 26 | 0.0385 | -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 | a0001c0001t0001g0042 a0001c0001t0001g0222 a0001c0001t0004g0001 others(19): Show |
23 | 49 | 0.4694 | -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 | a0001c0001t0003g0008 a0001c0001t0004g0053 |
2 | 122 | 0.0164 | -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 | a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0005g0007 others(6): Show |
9 | 10 | 0.9000 | -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 | a0001c0006t0046g0040 a0002c0004t0045g0039 |
2 | 77 | 0.0260 | -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 | a0001c0001t0008g0069 a0002c0004t0029g0083 a0002c0007t0008g0011 |
3 | 22 | 0.1364 | -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 | a0001c0001t0002g0046 a0001c0001t0007g0008 a0001c0001t0011g0098 others(17): Show |
20 | 25 | 0.8000 | -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 | a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0002t0006g0093 others(5): Show |
8 | 10 | 0.8000 | -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 | a0001c0001t0011g0020 a0001c0001t0044g0041 |
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 | a0001c0001t0002g0002 a0001c0001t0019g0065 a0001c0002t0001g0004 others(8): Show |
11 | 12 | 0.9167 | -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 | a0001c0001t0011g0020 a0001c0001t0044g0041 a0002c0020t0001g0022 |
3 | 79 | 0.0380 | -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 | a0001c0001t0044g0041 a0001c0002t0001g0030 a0001c0002t0038g0086 others(3): Show |
6 | 72 | 0.0833 | -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 | 33 | 0.0303 | -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 | a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0001t0005g0007 others(4): Show |
7 | 28 | 0.2500 | -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 | a0001c0001t0005g0170 | 1 | 57 | 0.0175 | -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 |
a0001a0006 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0003t0006others(2): Show | a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0006g0336 others(6): Show |
9 | 352 | 0.0256 | -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 | 404 | 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 |
a0003a0011 | a0003c0003a0011c0010 | a0003c0003t0001a0011c0010t0001 | a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(5): Show |
12 | 51 | 0.2353 | -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 | a0001c0001t0001g0086 a0001c0001t0001g0087 |
2 | 156 | 0.0128 | -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 | a0001c0010t0015g0009 a0003c0029t0018g0007 |
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 |