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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG7_chr3_11267397_11562665 | 11422769 | T | TTTG | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0044a0001c0002t0026others(2): Show | a0001c0001t0005g0149 a0001c0001t0005g0177 a0001c0001t0044g0179 others(3): Show |
6 | 160 | 0.0375 | 3 | c.195 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11427491 | A | ATTT | intron_variant | MODIFIER | HG02257.hp2 HG03209.hp2 HG03486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 others(11): Show |
14 | 54 | 0.2593 | 3 | c.207 others(20): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11440323 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp2 others(106): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(106): Show |
109 | 137 | 0.7956 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11440674 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01123.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 others(22): Show |
25 | 44 | 0.5682 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | C | CAAA | intron_variant | MODIFIER | HG01361.hp1 HG02257.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0283 a0001c0001t0003g0135 a0001c0001t0004g0232 others(6): Show |
9 | 57 | 0.1579 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11452384 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0104 others(98): Show |
101 | 119 | 0.8487 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11459173 | T | TAAA | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01175.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0248 a0001c0001t0002g0150 a0001c0001t0006g0145 others(5): Show |
8 | 36 | 0.2222 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11463622 | T | TGGA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(260): Show |
263 | 290 | 0.9069 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11471745 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0104 a0001c0001t0001g0210 a0001c0001t0001g0219 others(73): Show |
76 | 119 | 0.6387 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11486840 | T | TTTA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01978.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0220 a0001c0001t0001g0244 a0001c0001t0001g0245 others(20): Show |
23 | 223 | 0.1031 | 3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11516331 | T | TATA | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0037a0001c0002t0042 | a0001c0002t0007g0098 a0001c0002t0007g0182 a0001c0002t0007g0183 others(6): Show |
9 | 290 | 0.0310 | 3 | c.208 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11533539 | T | TAAA | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0013a0001c0002t0017others(1): Show | a0001c0001t0002g0249 a0001c0002t0013g0151 a0001c0002t0013g0270 others(3): Show |
6 | 65 | 0.0923 | 3 | c.208 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11559890 | A | AATT | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0045 | a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 others(6): Show |
9 | 290 | 0.0310 | 3 | c.*50 others(14): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 2226 | chr3 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215311082 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(74): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(54): Show |
77 | 170 | 0.4529 | 3 | c.-10 others(14): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 976 | chr2 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215311592 | A | AAAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00673.hp2 others(16): Show |
a0001a0005a0012 | a0001c0001a0001c0007a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0007t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0035 others(14): Show |
19 | 189 | 0.1005 | 3 | c.-55 others(12): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 466 | chr2 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215322329 | C | CTTT | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp1 others(3): Show |
a0001a0011 | a0001c0001a0001c0007a0011c0018 | a0001c0001t0001a0001c0007t0001a0011c0018t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
6 | 358 | 0.0168 | 3 | c.290 others(20): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215331380 | G | GGTT | intron_variant | MODIFIER | HG00735.hp2 HG02300.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0140 others(2): Show |
8 | 380 | 0.0211 | 3 | c.689 others(19): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215334189 | C | CTTT | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01361.hp2 others(14): Show |
a0002 | a0002c0002a0002c0014a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0002c0002t0001g0011 a0002c0002t0001g0187 a0002c0002t0001g0188 others(13): Show |
17 | 177 | 0.0960 | 3 | c.923 others(18): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50564647 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0003g0068 others(5): Show |
8 | 82 | 0.0976 | 3 | c.34+ others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50569418 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp2 others(47): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0012 others(36): Show |
50 | 292 | 0.1712 | 3 | c.34+ others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50592929 | A | AAAT | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG01981.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(8): Show |
11 | 162 | 0.0679 | 3 | c.523 others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50592929 | A | ATAT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0085 a0001c0001t0001g0195 a0001c0002t0001g0245 others(3): Show |
6 | 157 | 0.0382 | 3 | c.523 others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 4/13 | chr14 | TogoVar | |||||||
ATL1_chr14_50555145_50638045 | 50597220 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0026 a0001c0001t0003g0069 a0001c0003t0001g0159 others(11): Show |
15 | 84 | 0.1786 | 3 | c.630 others(20): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50629926 | G | GAAT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0027 others(78): Show |
88 | 317 | 0.2776 | 3 | c.155 others(18): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38292831 | A | AAAC | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG02145.hp1 others(3): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0003a0001c0003t0018a0003c0005t0003others(1): Show | a0001c0003t0003g0024 a0001c0003t0018g0013 a0003c0005t0003g0027 others(3): Show |
6 | 197 | 0.0305 | 3 | c.*31 others(14): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1122 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38294640 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01099.hp1 others(51): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0004a0001c0003t0003a0001c0003t0010others(8): Show | a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 others(51): Show |
54 | 147 | 0.3673 | 3 | c.*13 others(14): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 13/13 | 1353 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38300880 | G | GAAA | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02647.hp1 others(6): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0003a0001c0003t0017a0004c0007t0003 | a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0020 others(6): Show |
9 | 185 | 0.0486 | 3 | c.107 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38314439 | C | CTAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 others(138): Show |
141 | 234 | 0.6026 | 3 | c.711 others(18): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38334028 | C | CTTT | intron_variant | MODIFIER | HG02135.hp2 HG02257.hp1 HG02965.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0002a0001c0001t0013a0001c0003t0003others(1): Show | a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0106 others(4): Show |
7 | 97 | 0.0722 | 3 | c.363 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38352133 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(32): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0079 a0001c0001t0002g0050 a0001c0001t0002g0051 others(32): Show |
35 | 94 | 0.3723 | 3 | c.119 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38357651 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(22): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0003c0005others(1): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(8): Show | a0001c0003t0002g0131 a0001c0003t0003g0154 a0001c0003t0006g0026 others(22): Show |
25 | 99 | 0.2525 | 3 | c.119 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38360259 | C | CTTT | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(35): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0010others(11): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(35): Show |
38 | 178 | 0.2135 | 3 | c.119 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38367594 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 others(36): Show |
39 | 103 | 0.3786 | 3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38367634 | C | CTTT | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010a0001c0003t0018others(2): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(8): Show |
11 | 179 | 0.0615 | 3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38370150 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01891.hp2 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0004a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 others(20): Show |
23 | 188 | 0.1223 | 3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38372123 | G | GTTT | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG02155.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0109 others(6): Show |
9 | 83 | 0.1084 | 3 | c.118 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63668790 | C | CTTT | intron_variant | MODIFIER | HG03492.hp2 HG03831.hp1 HG03831.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(3): Show |
6 | 111 | 0.0541 | 3 | c.46+ others(18): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ATMIN_chr16_81030842_81052350 | 81033591 | C | CTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0003a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(57): Show |
234 | 259 | 0.9035 | 3 | c.-22 others(14): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 2250 | chr16 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108219732 | A | AAAC | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG02109.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0011a0001c0001t0017a0001c0001t0034others(6): Show | a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0017g0176 others(23): Show |
27 | 163 | 0.1656 | 3 | c.-34 others(14): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3334 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108231696 | C | CAAA | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00733.hp2 others(7): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0026a0003c0003t0001a0006c0007t0001 | a0001c0001t0026g0189 a0003c0003t0001g0184 a0003c0003t0001g0185 others(7): Show |
10 | 140 | 0.0714 | 3 | c.331 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108289962 | A | ATCC | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0016a0001c0008t0016 | a0001c0001t0016g0010 a0001c0008t0016g0116 a0001c0008t0016g0117 |
3 | 302 | 0.0099 | 3 | c.443 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108293892 | A | ATAT | intron_variant | MODIFIER | HG01071.hp2 HG02040.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0226 a0001c0001t0001g0237 |
3 | 225 | 0.0133 | 3 | c.477 others(20): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108356531 | T | TGTC | intron_variant | MODIFIER | HG00408.hp2 HG01975.hp1 HG02004.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0064 a0001c0001t0002g0069 others(16): Show |
19 | 302 | 0.0629 | 3 | c.885 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 61/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | A | ACAG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00544.hp2 HG00642.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show |
28 | 149 | 0.1879 | 3 | c.150 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOH7_chr10_68225595_68237113 | 68229387 | A | ATTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(1): Show |
91 | 102 | 0.8922 | 3 | c.*18 others(14): Show |
ATOH7 | ENSG00000179774.9 | transcript | ENST00000373673.5 | protein_coding | 1207 | chr10 | TogoVar | |||||||
ATOH7_chr10_68225595_68237113 | 68235641 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 |
62 | 81 | 0.7654 | 3 | c.-39 others(14): Show |
ATOH7 | ENSG00000179774.9 | transcript | ENST00000373673.5 | protein_coding | 3529 | chr10 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52588433 | A | AATT | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0004a0006c0006t0010 | a0006c0006t0004g0011 a0006c0006t0004g0186 a0006c0006t0004g0188 others(4): Show |
8 | 360 | 0.0222 | 3 | c.280 others(22): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52626529 | G | GAAA | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01169.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 a0002c0002t0001g0277 a0002c0002t0001g0279 others(16): Show |
19 | 49 | 0.3878 | 3 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52636127 | A | ATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(317): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0015others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(299): Show |
320 | 356 | 0.8989 | 3 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52639083 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0004a0006c0006t0010 | a0006c0006t0004g0011 a0006c0006t0004g0186 a0006c0006t0004g0188 others(4): Show |
8 | 347 | 0.0231 | 3 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar |