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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG4B_chr2_241632693_241678857 | 241673203 | TGTG | T | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02055.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0018 | a0001c0001t0006g0007 a0001c0001t0006g0141 a0001c0001t0006g0144 others(19): Show |
27 | 410 | 0.0659 | -3 | c.*94 others(12): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 13/13 | 943 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62783632 | CTAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 others(18): Show |
21 | 322 | 0.0652 | -3 | c.-70 others(12): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 499 | chr1 | TogoVar | |||||||
ATG4C_chr1_62779132_62870516 | 62794054 | GTTC | G | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 HG03098.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0292 a0001c0001t0002g0293 others(5): Show |
9 | 322 | 0.0280 | -3 | c.-68 others(20): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62794520 | ATTC | A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 others(3): Show |
6 | 322 | 0.0186 | -3 | c.-68 others(20): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62796207 | GTTT | G | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0249 a0001c0001t0001g0250 others(4): Show |
10 | 322 | 0.0311 | -3 | c.-68 others(20): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62801983 | AAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(14): Show |
17 | 322 | 0.0528 | -3 | c.-68 others(20): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62868029 | AATG | A | downstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0244 a0001c0001t0002g0287 others(13): Show |
17 | 322 | 0.0528 | -3 | c.*38 others(14): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 2514 | chr1 | TogoVar | |||||||
ATG4C_chr1_62779132_62870516 | 62868094 | TATG | T | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0247 |
3 | 322 | 0.0093 | -3 | c.*39 others(14): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 2579 | chr1 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTT | A | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp1 HG01884.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0002c0008a0005c0013 | a0001c0001t0001a0001c0001t0005a0002c0008t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0049 others(9): Show |
18 | 406 | 0.0443 | -3 | c.835 others(18): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106243904 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0091 others(6): Show |
10 | 358 | 0.0279 | -3 | c.573 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251764 | AAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0002 | a0001c0001t0012g0019 a0001c0003t0002g0011 a0001c0003t0002g0013 |
3 | 358 | 0.0084 | -3 | c.479 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106270133 | CCTT | C | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0123 |
4 | 358 | 0.0112 | -3 | c.478 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106307534 | CCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0020 others(46): Show |
53 | 358 | 0.1480 | -3 | c.236 others(18): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106308043 | GAAT | G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00735.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 others(17): Show |
20 | 358 | 0.0559 | -3 | c.236 others(18): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106313764 | ATAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00673.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0101 others(43): Show |
46 | 358 | 0.1285 | -3 | c.108 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106321969 | ACTC | A | intron_variant | MODIFIER | HG00438.hp2 NA18612.hp1 NA18946.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0060 others(3): Show |
8 | 358 | 0.0224 | -3 | c.-59 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106322214 | CCAA | C | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 others(1): Show |
4 | 358 | 0.0112 | -3 | c.-59 others(20): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11272191 | CTGG | C | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02976.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004a0001c0002t0013 | a0001c0001t0006g0152 a0001c0002t0004g0188 a0001c0002t0013g0151 |
3 | 292 | 0.0103 | -3 | c.-60 others(12): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 205 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11286583 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(130): Show |
133 | 292 | 0.4555 | -3 | c.-11 others(20): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11286909 | TTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(232): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(232): Show |
235 | 292 | 0.8048 | -3 | c.-11 others(20): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11334953 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG02132.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 others(7): Show |
10 | 292 | 0.0343 | -3 | c.889 others(20): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11336895 | ACTC | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02055.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 others(17): Show |
20 | 292 | 0.0685 | -3 | c.890 others(20): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11341385 | TAGA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0004a0001c0001t0006a0001c0002t0035others(1): Show | a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 others(7): Show |
10 | 292 | 0.0343 | -3 | c.980 others(18): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11354650 | CAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0045g0274 a0001c0002t0001g0175 a0001c0002t0001g0179 others(12): Show |
15 | 292 | 0.0514 | -3 | c.128 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11374892 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 others(69): Show |
72 | 292 | 0.2466 | -3 | c.187 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11375038 | TTAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0105 a0001c0001t0001g0199 a0001c0001t0001g0207 others(112): Show |
115 | 292 | 0.3938 | -3 | c.187 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11378685 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp2 others(89): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 others(89): Show |
92 | 292 | 0.3151 | -3 | c.187 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11390758 | GCAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(211): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(211): Show |
214 | 292 | 0.7329 | -3 | c.195 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11395939 | CAAA | C | intron_variant | MODIFIER | HG02132.hp2 HG02257.hp1 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0013others(2): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0009 others(9): Show |
12 | 292 | 0.0411 | -3 | c.195 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11395963 | AAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(65): Show |
68 | 292 | 0.2329 | -3 | c.195 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11398903 | CAAG | C | intron_variant | MODIFIER | HG00609.hp1 HG01256.hp1 HG02027.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0234 others(22): Show |
25 | 292 | 0.0856 | -3 | c.195 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11420753 | CTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0044others(4): Show | a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 others(12): Show |
15 | 292 | 0.0514 | -3 | c.195 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11422740 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 others(25): Show |
28 | 292 | 0.0959 | -3 | c.195 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11433313 | AAAG | A | intron_variant | MODIFIER | HG01943.hp1 HG02083.hp2 HG02738.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0105 a0001c0001t0003g0068 a0001c0001t0003g0108 others(5): Show |
8 | 292 | 0.0274 | -3 | c.207 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11441366 | CGAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01099.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0105 a0001c0001t0002g0069 a0001c0001t0002g0206 others(23): Show |
26 | 292 | 0.0890 | -3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11448368 | TCTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0105 a0001c0001t0002g0069 a0001c0001t0003g0068 others(20): Show |
23 | 292 | 0.0788 | -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 | 11471759 | TTTG | T | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(10): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0008a0002c0003t0016a0002c0003t0022others(4): Show | a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 others(10): Show |
13 | 292 | 0.0445 | -3 | c.207 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11486820 | GTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01099.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0105 a0001c0001t0002g0069 a0001c0001t0003g0068 others(26): Show |
29 | 292 | 0.0993 | -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 | 11519539 | GTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01081.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0140 a0001c0001t0001g0227 a0001c0001t0002g0241 others(8): Show |
11 | 292 | 0.0377 | -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 | 11538677 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(173): Show |
176 | 292 | 0.6027 | -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 | 11546162 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0009others(11): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0002t0004g0083 others(22): Show |
25 | 292 | 0.0856 | -3 | c.208 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11547452 | TATG | T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0098 a0001c0002t0007g0172 a0001c0002t0007g0173 others(4): Show |
7 | 292 | 0.0240 | -3 | c.208 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG9B_chr7_151010151_151029494 | 151023910 | GCTC | G | conservative_inframe_deletion | MODERATE | HG01167.hp1 HG02280.hp1 HG02630.hp2 others(6): Show |
a0006a0023 | a0006c0008a0006c0016a0006c0026others(1): Show | a0006c0008t0001a0006c0016t0001a0006c0026t0002others(1): Show | a0006c0008t0001g0024 a0006c0016t0001g0065 a0006c0016t0001g0067 others(2): Show |
9 | 466 | 0.0193 | -3 | c.511 others(10): Show |
p.Glu others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 1/14 | 584/3423 | 511/2775 | 171/924 | chr7 | TogoVar | |||
ATG9B_chr7_151010151_151029494 | 151024309 | AAGG | A | conservative_inframe_deletion | MODERATE | NA19030.hp2 NA19043.hp1 NA20129.hp2 |
a0015a0033 | a0015c0022a0033c0025 | a0015c0022t0001a0033c0025t0010 | a0015c0022t0001g0058 a0033c0025t0010g0181 |
3 | 466 | 0.0064 | -3 | c.112 others(10): Show |
p.Pro others(5): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 1/14 | 185/3423 | 112/2775 | 38/924 | chr7 | TogoVar | |||
ATG9B_chr7_151010151_151029494 | 151024520 | GACA | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(152): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0034others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(59): Show |
155 | 466 | 0.3326 | -3 | c.-10 others(11): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 27 | chr7 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215311082 | CAAA | C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02895.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0005a0001c0005t0005a0005c0006t0005 | a0001c0001t0005g0024 a0001c0001t0005g0098 a0001c0001t0005g0224 others(3): Show |
8 | 382 | 0.0209 | -3 | c.-10 others(14): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 976 | chr2 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215313035 | TGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(80): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0007 others(40): Show |
83 | 382 | 0.2173 | -3 | c.146 others(18): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50576945 | CATA | C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0039 a0001c0003t0001g0106 a0001c0003t0001g0153 others(6): Show |
9 | 320 | 0.0281 | -3 | c.35- others(20): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50599088 | TTAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0055 others(5): Show |
11 | 320 | 0.0344 | -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 | 50603517 | GGAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0010 | a0001c0004t0001a0001c0006t0001a0001c0010t0001 | a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 others(9): Show |
12 | 320 | 0.0375 | -3 | c.630 others(20): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | chr14 | TogoVar |