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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADA2_chr22_17173790_17224435 | 17193358 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0158 others(61): Show |
65 | 408 | 0.1593 | -1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17195761 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 others(64): Show |
68 | 408 | 0.1667 | -1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17201967 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(69): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0005others(23): Show | a0001c0001t0001g0119 a0001c0004t0001g0063 a0001c0004t0001g0070 others(69): Show |
72 | 408 | 0.1765 | -1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17202135 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(11): Show |
14 | 408 | 0.0343 | -1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17204608 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01070.hp2 others(33): Show |
a0001a0002a0010 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0153 others(33): Show |
36 | 408 | 0.0882 | -1 | c.543 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17204794 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01255.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(5): Show | a0001c0001t0001g0119 a0001c0005t0001g0209 a0001c0005t0002g0198 others(6): Show |
9 | 408 | 0.0221 | -1 | c.543 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17208445 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(140): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(61): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(139): Show |
143 | 408 | 0.3505 | -1 | c.322 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17209431 | TG | T | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | -1 | c.246 others(4): Show |
p.Ser others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 372/4355 | 246/1536 | 82/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209491 | GC | G | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | -1 | c.186 others(4): Show |
p.Arg others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 312/4355 | 186/1536 | 62/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209513 | CT | C | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | -1 | c.164 others(4): Show |
p.Lys others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 290/4355 | 164/1536 | 55/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209552 | CT | C | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | -1 | c.125 others(4): Show |
p.Lys others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 251/4355 | 125/1536 | 42/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209889 | AT | A | intron_variant | MODIFIER | HG01255.hp1 HG02615.hp1 HG02976.hp2 others(15): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0001t0001g0267 a0001c0001t0001g0322 a0001c0003t0001g0151 others(15): Show |
18 | 408 | 0.0441 | -1 | c.-46 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17210192 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(231): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0060 others(230): Show |
234 | 408 | 0.5735 | -1 | c.-46 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17214039 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(128): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0059 others(128): Show |
131 | 408 | 0.3211 | -1 | c.-46 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17215249 | TA | T | intron_variant | MODIFIER | HG01928.hp1 NA18948.hp1 NA19072.hp2 |
a0001a0010 | a0001c0001a0001c0004a0010c0013 | a0001c0001t0001a0001c0004t0001a0010c0013t0012 | a0001c0001t0001g0322 a0001c0004t0001g0324 a0010c0013t0012g0005 |
3 | 408 | 0.0074 | -1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17215605 | CA | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01175.hp1 others(33): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 others(33): Show |
36 | 408 | 0.0882 | -1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216377 | GA | G | intron_variant | MODIFIER | HG01255.hp1 HG01928.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0010 | a0001c0004a0001c0005a0002c0002others(2): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0002others(3): Show | a0001c0004t0001g0324 a0001c0005t0001g0209 a0001c0005t0002g0203 others(8): Show |
11 | 408 | 0.0270 | -1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216758 | CA | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0026a0001c0005t0002others(10): Show | a0001c0001t0001g0016 a0001c0003t0026g0026 a0001c0005t0002g0024 others(10): Show |
13 | 408 | 0.0319 | -1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216772 | AC | A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01346.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(16): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(29): Show |
32 | 408 | 0.0784 | -1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17219657 | TG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(44): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0171 a0001c0001t0001g0212 a0001c0001t0001g0213 others(43): Show |
47 | 408 | 0.1152 | -1 | c.-34 others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 223 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17219665 | GT | G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(8): Show | a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 others(14): Show |
17 | 408 | 0.0417 | -1 | c.-35 others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 231 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17221295 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(242): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(61): Show | a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 others(239): Show |
245 | 408 | 0.6005 | -1 | c.-19 others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1861 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17221783 | AG | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01346.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(22): Show |
25 | 408 | 0.0613 | -1 | c.-24 others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2349 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17222614 | TC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(85): Show | a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 others(285): Show |
291 | 408 | 0.7132 | -1 | c.-33 others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3180 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17223294 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(85): Show | a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 others(284): Show |
290 | 408 | 0.7108 | -1 | c.-39 others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3860 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122376325 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(70): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(58): Show |
73 | 376 | 0.1942 | -1 | c.-28 others(6): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 2685 | chr4 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CA | C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0020 others(8): Show |
13 | 376 | 0.0346 | -1 | c.-91 others(5): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122380129 | GA | G | frameshift_variant | HIGH | NA18997.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0115 | 1 | 376 | 0.0027 | -1 | c.65d others(3): Show |
p.Lys others(4): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 3/13 | 252/1963 | 65/1731 | 22/576 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122383472 | GT | G | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0202 a0001c0001t0001g0203 others(6): Show |
10 | 376 | 0.0266 | -1 | c.362 others(8): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122393036 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(84): Show |
102 | 376 | 0.2713 | -1 | c.530 others(8): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122398823 | AT | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01243.hp1 others(15): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0073 others(14): Show |
18 | 376 | 0.0479 | -1 | c.724 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122399740 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(102): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(88): Show |
105 | 376 | 0.2793 | -1 | c.724 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122402057 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(80): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(67): Show |
83 | 376 | 0.2207 | -1 | c.724 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122407248 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(187): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(161): Show |
190 | 376 | 0.5053 | -1 | c.725 others(8): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122407975 | TG | T | frameshift_variant | HIGH | NA19059.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0227 | 1 | 376 | 0.0027 | -1 | c.794 others(4): Show |
p.Gly others(5): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 8/13 | 981/1963 | 794/1731 | 265/576 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122408882 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(88): Show |
106 | 376 | 0.2819 | -1 | c.848 others(8): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122411343 | CT | C | frameshift_variant | HIGH | NA19059.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0227 | 1 | 376 | 0.0027 | -1 | c.973 others(4): Show |
p.Tyr others(5): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 9/13 | 1160/1963 | 973/1731 | 325/576 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122414275 | TG | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01123.hp1 others(46): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(31): Show |
49 | 376 | 0.1303 | -1 | c.125 others(10): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122415590 | TG | T | frameshift_variant | HIGH | NA19059.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0227 | 1 | 376 | 0.0027 | -1 | c.146 others(5): Show |
p.Gly others(5): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/13 | 1650/1963 | 1463/1731 | 488/576 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122416443 | CT | C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 |
3 | 376 | 0.0080 | -1 | c.148 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122417337 | TA | T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01069.hp2 others(34): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0045 others(30): Show |
37 | 376 | 0.0984 | -1 | c.148 others(10): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122418306 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(255): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(212): Show |
258 | 376 | 0.6862 | -1 | c.148 others(10): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122421127 | TA | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00735.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0042 others(29): Show |
35 | 376 | 0.0931 | -1 | c.148 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122422121 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(113): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(98): Show |
116 | 376 | 0.3085 | -1 | c.161 others(9): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122422956 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0032 others(43): Show |
55 | 376 | 0.1463 | -1 | c.161 others(10): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122425775 | AC | A | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0069 |
3 | 376 | 0.0080 | -1 | c.161 others(10): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
ADAD2_chr16_84186157_84202166 | 84193782 | GT | G | intron_variant | MODIFIER | NA18612.hp1 NA18995.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015 | 5 | 470 | 0.0106 | -1 | c.419 others(8): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADAD2_chr16_84186157_84202166 | 84194479 | TG | T | frameshift_variant | HIGH | NA19077.hp1 | a0025 | a0025c0039 | a0025c0039t0001 | a0025c0039t0001g0004 | 1 | 470 | 0.0021 | -1 | c.460 others(4): Show |
p.Val others(5): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 2/10 | 534/2018 | 460/1752 | 154/583 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195006 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0006others(31): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0010others(34): Show | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0034 others(66): Show |
293 | 470 | 0.6234 | -1 | c.607 others(7): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADAD2_chr16_84186157_84202166 | 84195115 | CG | C | frameshift_variant | HIGH | NA18963.hp1 | a0019 | a0019c0038 | a0019c0038t0001 | a0019c0038t0001g0070 | 1 | 470 | 0.0021 | -1 | c.656 others(4): Show |
p.Gly others(5): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 4/10 | 730/2018 | 656/1752 | 219/583 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |