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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL1_chr14_50555145_50638045 | 50574935 | GTGTA | G | intron_variant | MODIFIER | HG01943.hp1 HG01993.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0077a0001c0001t0001g0200a0001c0002t0001g0017others(6): Show | 10 | 320 | 0.0313 | -4 | c.35- others(21): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574937 | GTATA | G | intron_variant | MODIFIER | HG00140.hp2 HG02280.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0241a0001c0002t0001g0279a0001c0002t0001g0280others(1): Show | 4 | 320 | 0.0125 | -4 | c.35- others(21): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50590470 | CTGCT | C | intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(4): Show | 7 | 320 | 0.0219 | -4 | c.283 others(19): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50616455 | GTTAT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00673.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0071a0001c0001t0001g0072others(60): Show | 67 | 320 | 0.2094 | -4 | c.862 others(21): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38310629 | CTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG02897.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0006a0001c0001t0012a0001c0001t0037others(2): Show | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0006g0137others(14): Show | 17 | 236 | 0.0720 | -4 | c.805 others(19): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 7/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38319615 | AAGAG | A | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(38): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0015others(17): Show | a0001c0003t0003g0011a0001c0003t0003g0015a0001c0003t0003g0017others(38): Show | 41 | 236 | 0.1737 | -4 | c.364 others(19): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38323349 | GTTTT | G | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(34): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0013others(18): Show | a0001c0003t0003g0011a0001c0003t0003g0015a0001c0003t0003g0017others(34): Show | 37 | 236 | 0.1568 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325622 | GTACA | G | intron_variant | MODIFIER | HG01074.hp2 HG02602.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0074a0001c0001t0002g0080a0001c0001t0004g0120 | 3 | 236 | 0.0127 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACAC | T | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0001t0002g0052a0001c0001t0002g0107a0002c0002t0001g0159others(20): Show | 23 | 236 | 0.0975 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325695 | CCAGT | C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG02080.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0018a0001c0003t0003others(4): Show | a0001c0001t0002g0114a0001c0001t0002g0116a0001c0001t0018g0099others(8): Show | 11 | 236 | 0.0466 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01943.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0035a0001c0003t0001others(3): Show | a0001c0001t0002g0123a0001c0001t0035g0090a0001c0003t0001g0147others(8): Show | 11 | 236 | 0.0466 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325887 | TTTTG | T | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0013a0001c0003t0016others(1): Show | a0001c0003t0003g0128a0001c0003t0003g0129a0001c0003t0003g0130others(3): Show | 6 | 236 | 0.0254 | -4 | c.364 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38329423 | CAAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01943.hp2 HG01975.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0011a0001c0001t0035a0001c0003t0019others(1): Show | a0001c0001t0011g0070a0001c0001t0011g0071a0001c0001t0011g0098others(3): Show | 6 | 236 | 0.0254 | -4 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38339690 | TTTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 NA18943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0037 | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0006g0137others(12): Show | 15 | 236 | 0.0636 | -4 | c.363 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38340171 | TGGGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG02055.hp2 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0002g0122a0001c0001t0006g0134a0001c0001t0006g0135others(21): Show | 24 | 236 | 0.1017 | -4 | c.363 others(21): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38354562 | AAAAC | A | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02615.hp2 others(4): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0013 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0150others(4): Show | 7 | 236 | 0.0297 | -4 | c.119 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38365164 | CAAAT | C | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0021a0003c0004t0026others(1): Show | a0003c0004t0003g0029a0003c0004t0021g0032a0003c0004t0026g0030others(1): Show | 4 | 236 | 0.0170 | -4 | c.118 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38376758 | CCGGA | C | intron_variant | MODIFIER | HG01496.hp2 HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0014 | a0001c0003t0013g0003a0001c0003t0014g0001a0001c0003t0014g0002 | 3 | 236 | 0.0127 | -4 | c.118 others(19): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38381464 | GAAAA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG01256.hp1 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0054a0001c0001t0002g0101a0001c0001t0002g0104others(21): Show | 24 | 236 | 0.1017 | -4 | c.-42 others(15): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 4192 | chr2 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63623266 | CCTCA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0138a0001c0001t0001g0168others(2): Show | 6 | 242 | 0.0248 | -4 | c.*60 others(15): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 820 | chr11 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63646490 | AAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(156): Show | 173 | 242 | 0.7149 | -4 | c.618 others(17): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 6/12 | chr11 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63671074 | AAAGT | A | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0020g0048a0001c0001t0021g0049a0001c0001t0022g0046others(1): Show | 4 | 242 | 0.0165 | -4 | c.46+ others(17): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
ATMIN_chr16_81030842_81052350 | 81032209 | TTATC | T | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0032a0001c0003t0020g0033a0001c0003t0020g0060 | 3 | 392 | 0.0077 | -4 | c.-36 others(15): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 3632 | chr16 | TogoVar | ||||||
ATMIN_chr16_81030842_81052350 | 81046661 | GACAC | G | 3_prime_UTR_variant | MODIFIER | HG02886.hp1 HG03195.hp2 HG04228.hp1 others(3): Show |
a0001 | a0001c0003a0001c0011a0001c0021 | a0001c0003t0054a0001c0003t0056a0001c0011t0016others(1): Show | a0001c0003t0054g0019a0001c0003t0056g0019a0001c0011t0016g0010others(2): Show | 6 | 392 | 0.0153 | -4 | c.*17 others(15): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 4/4 | 1718 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ATM_chr11_108218067_108374102 | 108228154 | TTTAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
a0002 | a0002c0005a0002c0009 | a0002c0005t0003a0002c0005t0008a0002c0005t0015others(2): Show | a0002c0005t0003g0096a0002c0005t0008g0095a0002c0005t0008g0097others(10): Show | 13 | 304 | 0.0428 | -4 | c.185 others(19): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108232527 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(120): Show | 123 | 304 | 0.4046 | -4 | c.332 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108237899 | GTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01346.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0200a0001c0001t0001g0213a0001c0001t0001g0256others(16): Show | 19 | 304 | 0.0625 | -4 | c.496 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108241728 | GTCTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(3): Show | a0001c0001t0001g0153a0001c0001t0001g0163a0001c0001t0001g0204others(18): Show | 21 | 304 | 0.0691 | -4 | c.497 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108250141 | AATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(167): Show | 170 | 304 | 0.5592 | -4 | c.123 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108288599 | CTAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG02818.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0012 | a0001c0012t0024a0001c0012t0037a0001c0012t0038 | a0001c0012t0024g0300a0001c0012t0024g0303a0001c0012t0037g0301others(1): Show | 4 | 304 | 0.0132 | -4 | c.411 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 27/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108293894 | AATAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02647.hp1 others(6): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0008a0002c0005t0015 | a0002c0005t0003g0096a0002c0005t0008g0095a0002c0005t0008g0097others(6): Show | 9 | 304 | 0.0296 | -4 | c.477 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108299305 | TTCTC | T | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02602.hp1 others(15): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0004a0004c0004t0005a0005c0006t0005others(1): Show | a0004c0004t0004g0168a0004c0004t0004g0169a0004c0004t0004g0176others(15): Show | 18 | 304 | 0.0592 | -4 | c.500 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 33/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317615 | TTATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(52): Show |
a0001a0005a0010others(3): Show | a0001c0001a0001c0020a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(10): Show | a0001c0001t0001g0153a0001c0001t0001g0158a0001c0001t0001g0163others(52): Show | 55 | 304 | 0.1809 | -4 | c.634 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108336877 | CAATA | C | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02922.hp1 others(1): Show |
a0009a0023 | a0009c0013a0023c0033 | a0009c0013t0012a0023c0033t0012 | a0009c0013t0012g0117a0009c0013t0012g0119a0009c0013t0012g0120others(1): Show | 4 | 304 | 0.0132 | -4 | c.826 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 56/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108354066 | CACAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01978.hp2 HG02074.hp1 others(9): Show |
a0001a0005a0006 | a0001c0001a0005c0006a0006c0007 | a0001c0001t0001a0001c0001t0011a0005c0006t0005others(2): Show | a0001c0001t0001g0213a0001c0001t0001g0225a0001c0001t0001g0284others(9): Show | 12 | 304 | 0.0395 | -4 | c.878 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108360068 | AAGAG | A | intron_variant | MODIFIER | HG01346.hp2 HG01981.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0019 | 3 | 304 | 0.0099 | -4 | c.885 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 61/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108361156 | GACAA | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG03669.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0185a0003c0003t0001g0186a0003c0003t0001g0187others(1): Show | 4 | 304 | 0.0132 | -4 | c.885 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 61/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108362978 | AAAAC | A | intron_variant | MODIFIER | HG02895.hp2 HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0034a0001c0008t0002 | a0001c0001t0034g0152a0001c0008t0002g0041a0001c0008t0002g0044 | 3 | 304 | 0.0099 | -4 | c.885 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 61/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108372174 | TATTC | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02723.hp1 others(8): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0012a0004c0004others(3): Show | a0001c0001t0001a0001c0012t0037a0004c0004t0005others(4): Show | a0001c0001t0001g0243a0001c0012t0037g0301a0004c0004t0005g0004others(8): Show | 11 | 304 | 0.0362 | -4 | c.*66 others(15): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3073 | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925141 | TGAGA | T | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02145.hp1 HG02145.hp2 others(8): Show |
a0003a0008a0010others(1): Show | a0003c0005a0003c0013a0008c0019others(2): Show | a0003c0005t0011a0003c0013t0001a0003c0013t0005others(3): Show | a0003c0005t0011g0013a0003c0013t0001g0031a0003c0013t0005g0075others(5): Show | 11 | 414 | 0.0266 | -4 | c.-34 others(15): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2817 | chr12 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925400 | CAGAA | C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG03139.hp1 others(1): Show |
a0008 | a0008c0012a0008c0019 | a0008c0012t0001a0008c0019t0010 | a0008c0012t0001g0030a0008c0019t0010g0051 | 4 | 414 | 0.0097 | -4 | c.-31 others(15): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2558 | chr12 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6930800 | CAATA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(187): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0040a0001c0049others(21): Show | a0001c0001t0001a0001c0040t0001a0001c0049t0001others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0080a0001c0040t0001g0048others(103): Show | 190 | 414 | 0.4589 | -4 | c.-16 others(23): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATOH7_chr10_68225595_68237113 | 68227496 | GAATA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(7): Show | 329 | 386 | 0.8523 | -4 | c.*37 others(15): Show |
ATOH7 | ENSG00000179774.9 | transcript | ENST00000373673.5 | protein_coding | 3098 | chr10 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52583390 | GTCAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(8): Show | a0001c0001t0001g0177a0001c0001t0002g0098a0002c0002t0001g0014others(97): Show | 105 | 362 | 0.2901 | -4 | c.307 others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 12/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52595656 | TAGTG | T | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03209.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0178a0005c0008t0001g0179a0005c0008t0001g0180others(1): Show | 4 | 362 | 0.0111 | -4 | c.265 others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52601762 | GTTAA | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(200): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(186): Show | 203 | 362 | 0.5608 | -4 | c.246 others(21): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52617184 | GGTAA | G | intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 HG03453.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0194a0004c0005t0001g0195a0004c0005t0001g0196others(1): Show | 4 | 362 | 0.0111 | -4 | c.17- others(19): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52617735 | GAATA | G | intron_variant | MODIFIER | NA18946.hp2 NA18957.hp2 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278a0002c0002t0001g0292a0002c0002t0001g0294 | 3 | 362 | 0.0083 | -4 | c.17- others(19): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52621611 | AGAGT | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0004a0006c0006t0010 | a0006c0006t0004g0011a0006c0006t0004g0186a0006c0006t0004g0188others(4): Show | 8 | 362 | 0.0221 | -4 | c.17- others(19): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52622960 | TATAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0116others(81): Show | 89 | 362 | 0.2459 | -4 | c.17- others(19): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar |