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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD3A_chr1_1507162_1539685 | 1511006 | ACAAGGGA others(7): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 420 | 0.0024 | -14 | c.-12 others(25): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 1155 | chr1 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850819 | ATATTTAT others(7): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03540.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0067a0005c0005t0001g0070 | 2 | 286 | 0.0070 | -14 | c.245 others(33): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850859 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03225.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0015 | a0003c0003t0004g0109a0003c0003t0004g0111a0003c0003t0004g0116others(1): Show | 4 | 286 | 0.0140 | -14 | c.245 others(33): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850861 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02280.hp2 NA19043.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0091a0003c0003t0004g0114 | 2 | 286 | 0.0070 | -14 | c.245 others(33): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850863 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0096 | 1 | 286 | 0.0035 | -14 | c.245 others(33): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3879507 | AAGAAAGA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 384 | 0.0026 | -14 | c.-15 others(25): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1177 | chr19 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121770233 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0202a0001c0010t0001g0225 | 2 | 320 | 0.0063 | -14 | c.137 others(35): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121786202 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | NA18986.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0222 | 2 | 320 | 0.0063 | -14 | c.137 others(33): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121851090 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0162a0001c0001t0003g0206a0001c0002t0005g0207 | 3 | 320 | 0.0094 | -14 | c.976 others(31): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121896823 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18940.hp2 NA18946.hp1 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0007 | a0001c0002t0002g0044a0001c0002t0003g0127a0001c0002t0007g0031 | 3 | 320 | 0.0094 | -14 | c.942 others(31): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50785280 | TACATACA others(7): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 382 | 0.0026 | -14 | c.93+ others(29): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF1_chr12_50759101_50826162 | 50785284 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0210a0001c0001t0001g0218others(28): Show | 32 | 382 | 0.0838 | -14 | c.93+ others(29): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF2_chr2_175067259_175173203 | 175142714 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG04199.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197a0001c0001t0005g0198a0001c0001t0005g0199 | 3 | 224 | 0.0134 | -14 | c.-43 others(31): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
ATF6B_chr6_32110264_32133246 | 32123227 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03834.hp1 HG06807.hp2 NA18948.hp1 others(3): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0002 | a0001c0001t0002g0019a0001c0001t0002g0095a0008c0009t0002g0094 | 6 | 439 | 0.0137 | -14 | c.479 others(31): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 5/17 | chr6 | TogoVar | ||||||
ATF6B_chr6_32110264_32133246 | 32130709 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0094 | 1 | 439 | 0.0023 | -14 | c.-25 others(25): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 2464 | chr6 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161791072 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0164a0001c0001t0004g0170a0001c0001t0004g0171others(8): Show | 11 | 332 | 0.0331 | -14 | c.355 others(29): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF6_chr1_161761320_161969070 | 161851233 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0007 | a0007c0008 | a0007c0008t0062 | a0007c0008t0062g0328 | 1 | 332 | 0.0030 | -14 | c.132 others(31): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF7IP2_chr16_10381061_10488638 | 10454408 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0136 | 1 | 376 | 0.0027 | -14 | c.119 others(33): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14422312 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp1 HG02132.hp2 others(7): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0011a0003c0003t0012a0005c0007t0010 | a0003c0003t0011g0204a0003c0003t0012g0182a0005c0007t0010g0002others(6): Show | 10 | 346 | 0.0289 | -14 | c.-7- others(29): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14494284 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02717.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0005others(3): Show | a0001c0001t0002g0113a0001c0001t0002g0145a0001c0001t0003g0077others(8): Show | 11 | 346 | 0.0318 | -14 | c.328 others(33): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7_chr12_53507054_53631382 | 53587866 | ACACGAAG others(7): Show |
A | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 330 | 0.0030 | -14 | c.48+ others(31): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52068990 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 394 | 0.0025 | -14 | c.-14 others(25): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 987 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82119984 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02165.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0171a0003c0003t0001g0175a0003c0003t0001g0176others(5): Show | 8 | 226 | 0.0354 | -14 | c.217 others(33): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG12_chr5_115823200_115846565 | 115845836 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 402 | 0.0025 | -14 | c.-42 others(25): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4272 | chr5 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46622076 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG02165.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0005 | a0001c0001t0001g0063a0001c0001t0001g0076a0001c0001t0001g0092others(7): Show | 10 | 218 | 0.0459 | -14 | c.-70 others(31): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATG13_chr11_46612553_46679518 | 46622122 | TATATATT others(7): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 218 | 0.0046 | -14 | c.-70 others(31): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46647280 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 218 | 0.0046 | -14 | c.270 others(31): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATG14_chr14_55361391_55416830 | 55375490 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008a0001c0001t0006g0072a0001c0001t0006g0073others(5): Show | 9 | 366 | 0.0246 | -14 | c.117 others(33): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 9/9 | chr14 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402926 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0027 | 1 | 366 | 0.0027 | -14 | c.222 others(31): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233296608 | GGTGTGTG others(7): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG02615.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021a0001c0001t0023 | a0001c0001t0004g0061a0001c0001t0004g0086a0001c0001t0004g0087others(27): Show | 30 | 354 | 0.0848 | -14 | c.*22 others(25): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 940 | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233296647 | GTATGTAT others(7): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165a0001c0001t0003g0187 | 2 | 354 | 0.0057 | -14 | c.*22 others(25): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 979 | chr2 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308243 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01496.hp2 HG02015.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0004 | a0001c0002t0001g0270a0001c0002t0001g0287a0001c0002t0001g0292others(1): Show | 4 | 356 | 0.0112 | -14 | c.430 others(33): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01928.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0203a0001c0001t0003g0204a0001c0002t0001g0017others(9): Show | 15 | 376 | 0.0399 | -14 | c.667 others(29): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA18965.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0034 | 2 | 249 | 0.0080 | -14 | c.815 others(31): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG4B_chr2_241632693_241678857 | 241642173 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 410 | 0.0024 | -14 | c.10+ others(29): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 322 | 0.0031 | -14 | c.120 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850889 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG03139.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0300a0001c0001t0003g0193 | 2 | 322 | 0.0062 | -14 | c.120 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62861576 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0245a0001c0003t0002g0247 | 2 | 322 | 0.0062 | -14 | c.121 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62861614 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266a0001c0001t0001g0279 | 2 | 322 | 0.0062 | -14 | c.121 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(39): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0036others(12): Show | 42 | 406 | 0.1035 | -14 | c.835 others(29): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG5_chr6_106179476_106330760 | 106250985 | ATACGCAA others(7): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 358 | 0.0028 | -14 | c.479 others(31): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106297717 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00673.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0071a0001c0001t0001g0075a0001c0001t0001g0101others(34): Show | 37 | 358 | 0.1034 | -14 | c.237 others(31): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106297753 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 358 | 0.0028 | -14 | c.237 others(31): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106317570 | TGGTTATT others(7): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 358 | 0.0028 | -14 | c.-58 others(31): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11295774 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 292 | 0.0034 | -14 | c.-10 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11433289 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 292 | 0.0034 | -14 | c.207 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0014 | a0001c0001t0006g0182a0001c0002t0014g0181 | 2 | 292 | 0.0069 | -14 | c.207 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11475868 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0013 | a0001c0001t0002g0206a0001c0002t0013g0133 | 2 | 292 | 0.0069 | -14 | c.207 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11478989 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0013 | 1 | 292 | 0.0034 | -14 | c.207 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(67): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0014others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0131a0002c0002t0001g0011a0002c0002t0001g0173others(46): Show | 70 | 382 | 0.1833 | -14 | c.689 others(29): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |