regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG16L1_chr2_233246673_233300669 | 233290264 | T | C | synonymous_variant | LOW | HG02129.hp2 | a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0031 | 1 | 354 | 0.0028 | 0 | c.134 others(4): Show |
p.Phe others(6): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 14/18 | 1496/3298 | 1341/1824 | 447/607 | chr2 | TogoVar | ||
ATG16L1_chr2_233246673_233300669 | 233293301 | G | A | synonymous_variant | LOW | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0097 | 1 | 354 | 0.0028 | 0 | c.167 others(4): Show |
p.Leu others(6): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 17/18 | 1829/3298 | 1674/1824 | 558/607 | chr2 | TogoVar | ||
ATG16L1_chr2_233246673_233300669 | 233294314 | C | T | synonymous_variant | LOW | HG02965.hp2 HG03471.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0092a0001c0005t0003g0182a0001c0005t0003g0183others(1): Show | 4 | 354 | 0.0113 | 0 | c.178 others(4): Show |
p.Asp others(6): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 18/18 | 1943/3298 | 1788/1824 | 596/607 | chr2 | TogoVar | ||
ATG16L2_chr11_72809411_72834635 | 72824840 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00558.hp1 HG02132.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0026 | 3 | 440 | 0.0068 | 0 | c.994 others(3): Show |
p.Leu others(6): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 9/18 | 1029/2140 | 994/1860 | 332/619 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64895135 | G | A | synonymous_variant | LOW | HG01109.hp1 HG01934.hp2 HG02257.hp1 others(10): Show |
a0003a0007 | a0003c0003a0007c0011 | a0003c0003t0001a0007c0011t0001 | a0003c0003t0001g0018a0003c0003t0001g0032a0003c0003t0001g0079others(6): Show | 13 | 372 | 0.0350 | 0 | c.565 others(4): Show |
p.Ala others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 41/41 | 5729/6318 | 5655/5817 | 1885/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64895362 | C | A | synonymous_variant | LOW | NA19030.hp1 NA19030.hp2 NA20300.hp2 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0056a0012c0016t0001g0057a0012c0016t0001g0062 | 3 | 372 | 0.0081 | 0 | c.550 others(4): Show |
p.Arg others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 40/41 | 5582/6318 | 5508/5817 | 1836/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64895377 | A | G | synonymous_variant | LOW | HG01069.hp1 HG01071.hp1 HG02055.hp2 others(8): Show |
a0007a0008a0017others(4): Show | a0007c0025a0008c0013a0008c0035others(5): Show | a0007c0025t0001a0008c0013t0001a0008c0035t0001others(5): Show | a0007c0025t0001g0078a0008c0013t0001g0017a0008c0013t0001g0073others(6): Show | 11 | 372 | 0.0296 | 0 | c.549 others(4): Show |
p.Asp others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 40/41 | 5567/6318 | 5493/5817 | 1831/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64896534 | C | T | synonymous_variant | LOW | HG02970.hp1 | a0007 | a0007c0025 | a0007c0025t0001 | a0007c0025t0001g0078 | 1 | 372 | 0.0027 | 0 | c.535 others(4): Show |
p.Gly others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 39/41 | 5429/6318 | 5355/5817 | 1785/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64897886 | T | G | synonymous_variant | LOW | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(21): Show |
a0003a0007a0008others(5): Show | a0003c0003a0007c0011a0007c0025others(7): Show | a0003c0003t0001a0007c0011t0001a0007c0025t0001others(7): Show | a0003c0003t0001g0018a0003c0003t0001g0032a0003c0003t0001g0079others(15): Show | 24 | 372 | 0.0645 | 0 | c.494 others(4): Show |
p.Gly others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 35/41 | 5021/6318 | 4947/5817 | 1649/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64897922 | T | C | synonymous_variant | LOW | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(21): Show |
a0003a0007a0008others(5): Show | a0003c0003a0007c0011a0007c0025others(7): Show | a0003c0003t0001a0007c0011t0001a0007c0025t0001others(7): Show | a0003c0003t0001g0018a0003c0003t0001g0032a0003c0003t0001g0079others(15): Show | 24 | 372 | 0.0645 | 0 | c.491 others(4): Show |
p.Glu others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 35/41 | 4985/6318 | 4911/5817 | 1637/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64898270 | A | G | synonymous_variant | LOW | HG01943.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0210 | 1 | 372 | 0.0027 | 0 | c.476 others(4): Show |
p.Asn others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 33/41 | 4838/6318 | 4764/5817 | 1588/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64898297 | G | A | synonymous_variant | LOW | HG02165.hp1 NA19067.hp2 |
a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0118a0001c0021t0001g0126 | 2 | 372 | 0.0054 | 0 | c.473 others(4): Show |
p.Arg others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 33/41 | 4811/6318 | 4737/5817 | 1579/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64898774 | C | A | synonymous_variant | LOW | NA19058.hp1 | a0029 | a0029c0045 | a0029c0045t0001 | a0029c0045t0001g0183 | 1 | 372 | 0.0027 | 0 | c.453 others(4): Show |
p.Leu others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 32/41 | 4607/6318 | 4533/5817 | 1511/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64906397 | G | A | synonymous_variant | LOW | HG02129.hp1 NA18747.hp1 NA18941.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012a0001c0006t0001g0165a0001c0006t0001g0166 | 7 | 372 | 0.0188 | 0 | c.312 others(4): Show |
p.Gly others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 21/41 | 3194/6318 | 3120/5817 | 1040/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64906741 | G | A | synonymous_variant | LOW | NA18961.hp2 | a0006 | a0006c0047 | a0006c0047t0001 | a0006c0047t0001g0211 | 1 | 372 | 0.0027 | 0 | c.290 others(4): Show |
p.Ser others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 20/41 | 2981/6318 | 2907/5817 | 969/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64906783 | G | A | synonymous_variant | LOW | HG01071.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0207 | 1 | 372 | 0.0027 | 0 | c.286 others(4): Show |
p.His others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 20/41 | 2939/6318 | 2865/5817 | 955/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64907405 | C | T | synonymous_variant | LOW | NA18944.hp1 NA19007.hp1 |
a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0106a0001c0020t0001g0107 | 2 | 372 | 0.0054 | 0 | c.268 others(4): Show |
p.Ser others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 19/41 | 2756/6318 | 2682/5817 | 894/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64907655 | G | A | synonymous_variant | LOW | HG02055.hp2 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0077 | 1 | 372 | 0.0027 | 0 | c.251 others(4): Show |
p.Asn others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 18/41 | 2591/6318 | 2517/5817 | 839/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64909838 | G | A | synonymous_variant | LOW | HG01169.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0099 | 1 | 372 | 0.0027 | 0 | c.195 others(4): Show |
p.Ala others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 14/41 | 2024/6318 | 1950/5817 | 650/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64910121 | G | A | synonymous_variant | LOW | NA18954.hp2 NA18971.hp1 NA19089.hp2 |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0100a0001c0017t0001g0132a0001c0017t0001g0133 | 3 | 372 | 0.0081 | 0 | c.178 others(4): Show |
p.Asp others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 13/41 | 1856/6318 | 1782/5817 | 594/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64910688 | C | T | synonymous_variant | LOW | NA19004.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0174 | 1 | 372 | 0.0027 | 0 | c.163 others(4): Show |
p.Thr others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 12/41 | 1709/6318 | 1635/5817 | 545/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64910834 | C | G | synonymous_variant | LOW | HG02615.hp1 HG02717.hp2 |
a0016 | a0016c0024 | a0016c0024t0003a0016c0024t0006 | a0016c0024t0003g0154a0016c0024t0006g0173 | 2 | 372 | 0.0054 | 0 | c.158 others(4): Show |
p.Arg others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 11/41 | 1661/6318 | 1587/5817 | 529/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64912119 | G | A | synonymous_variant | LOW | HG02723.hp2 | a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0134 | 1 | 372 | 0.0027 | 0 | c.105 others(4): Show |
p.Pro others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 8/41 | 1127/6318 | 1053/5817 | 351/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64912245 | G | A | synonymous_variant | LOW | HG02071.hp1 NA19010.hp2 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0135a0001c0023t0001g0137 | 2 | 372 | 0.0054 | 0 | c.927 others(3): Show |
p.His others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 8/41 | 1001/6318 | 927/5817 | 309/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64912376 | C | G | synonymous_variant | LOW | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0011a0001c0004t0002g0138a0001c0004t0002g0140others(2): Show | 9 | 372 | 0.0242 | 0 | c.873 others(3): Show |
p.Pro others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 7/41 | 947/6318 | 873/5817 | 291/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64912376 | C | T | synonymous_variant | LOW | HG02896.hp2 HG02897.hp2 HG03041.hp2 others(5): Show |
a0002a0014 | a0002c0007a0014c0019 | a0002c0007t0001a0014c0019t0003 | a0002c0007t0001g0016a0002c0007t0001g0063a0002c0007t0001g0064others(3): Show | 8 | 372 | 0.0215 | 0 | c.873 others(3): Show |
p.Pro others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 7/41 | 947/6318 | 873/5817 | 291/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64913272 | C | T | synonymous_variant | LOW | HG02615.hp2 HG03041.hp1 HG03225.hp2 |
a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0059a0010c0014t0001g0060a0010c0014t0001g0061 | 3 | 372 | 0.0081 | 0 | c.720 others(3): Show |
p.Pro others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 5/41 | 794/6318 | 720/5817 | 240/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64913329 | G | A | synonymous_variant | LOW | HG04228.hp1 | a0008 | a0008c0035 | a0008c0035t0001 | a0008c0035t0001g0076 | 1 | 372 | 0.0027 | 0 | c.663 others(3): Show |
p.Ala others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 5/41 | 737/6318 | 663/5817 | 221/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64913347 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(176): Show |
a0001a0004a0006others(10): Show | a0001c0001a0001c0006a0001c0038others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(97): Show | 179 | 372 | 0.4812 | 0 | c.645 others(3): Show |
p.Asp others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 5/41 | 719/6318 | 645/5817 | 215/1938 | chr11 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96285824 | G | A | synonymous_variant | LOW | HG01261.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0269 | 1 | 356 | 0.0028 | 0 | c.616 others(4): Show |
p.Gly others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 42/42 | 6533/13162 | 6168/6237 | 2056/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96290487 | C | T | synonymous_variant | LOW | NA18747.hp1 NA20300.hp1 |
a0001 | a0001c0025a0001c0035 | a0001c0025t0001a0001c0035t0034 | a0001c0025t0001g0307a0001c0035t0034g0221 | 2 | 356 | 0.0056 | 0 | c.580 others(4): Show |
p.Ser others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 40/42 | 6170/13162 | 5805/6237 | 1935/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96302088 | G | A | synonymous_variant | LOW | HG00621.hp1 HG02040.hp1 HG02523.hp2 others(8): Show |
a0004 | a0004c0006 | a0004c0006t0010a0004c0006t0013 | a0004c0006t0010g0333a0004c0006t0010g0334a0004c0006t0010g0335others(7): Show | 11 | 356 | 0.0309 | 0 | c.505 others(4): Show |
p.His others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 34/42 | 5423/13162 | 5058/6237 | 1686/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96303199 | G | A | synonymous_variant | LOW | HG03195.hp2 NA18522.hp2 NA20129.hp1 |
a0001 | a0001c0012 | a0001c0012t0024a0001c0012t0050 | a0001c0012t0024g0093a0001c0012t0024g0094a0001c0012t0050g0095 | 3 | 356 | 0.0084 | 0 | c.489 others(4): Show |
p.Leu others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 33/42 | 5264/13162 | 4899/6237 | 1633/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96303229 | C | T | synonymous_variant | LOW | HG00642.hp2 HG02809.hp2 HG03130.hp2 |
a0001 | a0001c0013 | a0001c0013t0005a0001c0013t0022 | a0001c0013t0005g0091a0001c0013t0022g0085a0001c0013t0022g0090 | 3 | 356 | 0.0084 | 0 | c.486 others(4): Show |
p.Pro others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 33/42 | 5234/13162 | 4869/6237 | 1623/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96309559 | T | C | synonymous_variant | LOW | NA18950.hp2 | a0001 | a0001c0022 | a0001c0022t0015 | a0001c0022t0015g0252 | 1 | 356 | 0.0028 | 0 | c.419 others(4): Show |
p.Pro others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/42 | 4562/13162 | 4197/6237 | 1399/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96317747 | A | G | synonymous_variant | LOW | HG00642.hp2 HG01891.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0013a0001c0024 | a0001c0013t0005a0001c0013t0022a0001c0024t0006 | a0001c0013t0005g0091a0001c0013t0022g0085a0001c0013t0022g0090others(1): Show | 4 | 356 | 0.0112 | 0 | c.298 others(4): Show |
p.Asn others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 19/42 | 3353/13162 | 2988/6237 | 996/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96331387 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0002a0004others(20): Show | a0001c0002a0001c0003a0001c0011others(31): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0051others(76): Show | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0258others(264): Show | 281 | 356 | 0.7893 | 0 | c.171 others(4): Show |
p.His others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 11/42 | 2084/13162 | 1719/6237 | 573/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96343194 | G | A | synonymous_variant | LOW | HG02970.hp2 | a0001 | a0001c0032 | a0001c0032t0056 | a0001c0032t0056g0310 | 1 | 356 | 0.0028 | 0 | c.669 others(3): Show |
p.Leu others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 5/42 | 1034/13162 | 669/6237 | 223/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96345249 | A | G | synonymous_variant | LOW | HG03195.hp2 NA18522.hp2 NA20129.hp1 |
a0001 | a0001c0012 | a0001c0012t0024a0001c0012t0050 | a0001c0012t0024g0093a0001c0012t0024g0094a0001c0012t0050g0095 | 3 | 356 | 0.0084 | 0 | c.462 others(3): Show |
p.Ala others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 3/42 | 827/13162 | 462/6237 | 154/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96345327 | T | C | synonymous_variant | LOW | HG00621.hp1 HG02040.hp1 HG02523.hp2 others(9): Show |
a0004 | a0004c0006a0004c0041 | a0004c0006t0010a0004c0006t0013a0004c0041t0063 | a0004c0006t0010g0333a0004c0006t0010g0334a0004c0006t0010g0335others(8): Show | 12 | 356 | 0.0337 | 0 | c.384 others(3): Show |
p.Ala others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 3/42 | 749/13162 | 384/6237 | 128/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96362953 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
a0001a0002a0004others(11): Show | a0001c0003a0001c0011a0001c0035others(14): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0005others(44): Show | a0001c0003t0002g0214a0001c0003t0003g0008a0001c0003t0003g0009others(165): Show | 176 | 356 | 0.4944 | 0 | c.24C others(2): Show |
p.Ser others(4): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 1/42 | 389/13162 | 24/6237 | 8/2078 | chr14 | TogoVar | ||
ATG2B_chr14_96274195_96368341 | 96362965 | C | T | synonymous_variant | LOW | HG01123.hp1 HG01261.hp1 HG02300.hp1 |
a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0018a0001c0011t0003g0019a0001c0011t0003g0020 | 3 | 356 | 0.0084 | 0 | c.12G others(2): Show |
p.Pro others(4): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 1/42 | 377/13162 | 12/6237 | 4/2078 | chr14 | TogoVar | ||
ATG3_chr3_112527510_112566962 | 112537783 | A | G | synonymous_variant | LOW | HG00408.hp1 HG00621.hp1 HG00735.hp1 others(77): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0011others(30): Show | 80 | 376 | 0.2128 | 0 | c.618 others(3): Show |
p.Tyr others(6): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/12 | 1052/1568 | 618/945 | 206/314 | chr3 | TogoVar | ||
ATG4A_chrX_108086778_108159671 | 108131267 | G | T | synonymous_variant | LOW | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0219 | 1 | 249 | 0.0040 | 0 | c.201 others(3): Show |
p.Thr others(5): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 4/13 | 250/2205 | 201/1197 | 67/398 | chrX | TogoVar | ||
ATG4A_chrX_108086778_108159671 | 108150219 | G | A | synonymous_variant | LOW | HG01106.hp1 HG01884.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142a0001c0002t0001g0143a0001c0002t0001g0144others(4): Show | 7 | 249 | 0.0281 | 0 | c.882 others(3): Show |
p.Thr others(6): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 10/13 | 931/2205 | 882/1197 | 294/398 | chrX | TogoVar | ||
ATG4A_chrX_108086778_108159671 | 108153029 | A | G | synonymous_variant | LOW | NA19076.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 | 1 | 249 | 0.0040 | 0 | c.106 others(4): Show |
p.Pro others(6): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 12/13 | 1117/2205 | 1068/1197 | 356/398 | chrX | TogoVar | ||
ATG4B_chr2_241632693_241678857 | 241654571 | G | A | synonymous_variant | LOW | HG01109.hp1 HG01496.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0122a0001c0006t0003g0123a0001c0006t0003g0134others(1): Show | 4 | 410 | 0.0098 | 0 | c.309 others(3): Show |
p.Arg others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 5/13 | 331/2797 | 309/1182 | 103/393 | chr2 | TogoVar | ||
ATG4B_chr2_241632693_241678857 | 241666718 | C | T | synonymous_variant | LOW | HG02074.hp2 HG03209.hp1 NA18906.hp1 others(3): Show |
a0001a0003 | a0001c0007a0003c0008 | a0001c0007t0005a0003c0008t0019 | a0001c0007t0005g0058a0001c0007t0005g0059a0001c0007t0005g0065others(3): Show | 6 | 410 | 0.0146 | 0 | c.612 others(3): Show |
p.Asn others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 8/13 | 634/2797 | 612/1182 | 204/393 | chr2 | TogoVar | ||
ATG4B_chr2_241632693_241678857 | 241666760 | A | G | synonymous_variant | LOW | HG02080.hp1 NA18939.hp1 NA18954.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0174a0001c0005t0005g0180a0001c0005t0005g0198others(2): Show | 5 | 410 | 0.0122 | 0 | c.654 others(3): Show |
p.Pro others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 8/13 | 676/2797 | 654/1182 | 218/393 | chr2 | TogoVar | ||
ATG4B_chr2_241632693_241678857 | 241671314 | G | A | splice_region_variant others(1): Show |
LOW | HG03017.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0306 | 1 | 410 | 0.0024 | 0 | c.101 others(4): Show |
p.Leu others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 12/13 | 1039/2797 | 1017/1182 | 339/393 | chr2 | TogoVar |