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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN2_chr9_116418112_117420057 | 116739456 | AGAATTTG others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 | 1 | 100 | 0.0100 | -18 | c.239 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116739469 | TCTCTGGA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(42): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(42): Show |
45 | 100 | 0.4500 | -18 | c.239 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116801604 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0098 | 1 | 100 | 0.0100 | -18 | c.239 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116889720 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0003t0006 | a0001c0001t0003g0013 a0001c0001t0011g0002 a0001c0003t0006g0017 others(1): Show |
4 | 14 | 0.2857 | -18 | c.189 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116964250 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 100 | 0.0100 | -18 | c.188 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117005871 | CATTGTGG others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 100 | 0.0100 | -18 | c.159 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060324 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 100 | 0.0100 | -18 | c.127 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120010 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0053 a0001c0001t0004g0059 a0001c0001t0008g0064 others(6): Show |
9 | 95 | 0.0947 | -18 | c.116 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117134295 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0006a0001c0012t0001 | a0001c0003t0006g0017 a0001c0012t0001g0098 |
2 | 69 | 0.0290 | -18 | c.116 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117188176 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03139.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0021a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0099 a0001c0001t0003g0013 a0001c0001t0005g0077 others(3): Show |
6 | 100 | 0.0600 | -18 | c.101 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0003t0007others(1): Show | a0001c0001t0001g0028 a0001c0001t0002g0070 a0001c0003t0007g0071 others(1): Show |
4 | 22 | 0.1818 | -18 | c.631 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117365291 | TAGAAAGA others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0005a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0005g0096 a0001c0001t0009g0086 a0001c0002t0002g0046 others(1): Show |
4 | 100 | 0.0400 | -18 | c.442 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01361.hp2 others(26): Show |
a0001a0005a0015 | a0001c0002a0001c0005a0001c0026others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(6): Show | a0001c0002t0002g0193 a0001c0002t0002g0199 a0001c0002t0002g0201 others(26): Show |
29 | 50 | 0.5800 | -18 | c.252 others(37): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32426541 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0030 | 1 | 189 | 0.0053 | -18 | c.253 others(35): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33636331 | AACAGCAA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02258.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0002g0007 others(8): Show |
11 | 218 | 0.0505 | -18 | c.138 others(35): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713230 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 a0001c0001t0005g0014 |
2 | 218 | 0.0092 | -18 | c.880 others(37): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1512485 | GGGGCGGG others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0005a0009 | a0005c0009a0009c0017 | a0005c0009t0008a0009c0017t0008 | a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 others(1): Show |
5 | 419 | 0.0119 | -18 | c.205 others(31): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1449218 | ACTCTCTA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0063 | 1 | 408 | 0.0025 | -18 | c.-14 others(29): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 470 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1449237 | CTCTCTGA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18943.hp2 NA18956.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(3): Show | a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0003g0234 others(6): Show |
9 | 408 | 0.0221 | -18 | c.-14 others(29): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 451 | chr1 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30827140 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0079 | 1 | 116 | 0.0086 | -18 | c.-52 others(29): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 4825 | chr17 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850817 | TTATATTT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03453.hp1 |
a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0070 a0005c0005t0006g0071 a0005c0005t0006g0073 |
3 | 282 | 0.0106 | -18 | c.245 others(37): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850853 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 280 | 0.0036 | -18 | c.245 others(37): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850855 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0003 | a0004c0003t0014 | a0004c0003t0014g0090 | 1 | 278 | 0.0036 | -18 | c.245 others(37): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850857 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0091 | 1 | 276 | 0.0036 | -18 | c.245 others(37): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850859 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0093 | 1 | 277 | 0.0036 | -18 | c.245 others(37): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30876702 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0002 | a0002c0002a0002c0012a0002c0019 | a0002c0002t0002a0002c0002t0009a0002c0002t0019others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(56): Show |
64 | 151 | 0.4238 | -18 | c.378 others(35): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879507 | AAGAAAGA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03098.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0008g0097 |
3 | 298 | 0.0101 | -18 | c.-15 others(29): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1177 | chr19 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121851090 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 55 | 0.0182 | -18 | c.976 others(35): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50785284 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0004 | a0001c0001t0001g0327 a0001c0001t0005g0040 a0001c0002t0004g0292 |
3 | 9 | 0.3333 | -18 | c.93+ others(33): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161791088 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG06807.hp2 NA19087.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0047a0003c0004t0003 | a0001c0002t0001g0184 a0001c0002t0047g0215 a0003c0004t0003g0080 |
3 | 329 | 0.0091 | -18 | c.355 others(33): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161917848 | AGCAATTT others(11): Show |
A | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0120 | 1 | 330 | 0.0030 | -18 | c.180 others(37): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | chr1 | TogoVar | |||||||
ATF7IP2_chr16_10381061_10488638 | 10479958 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03017.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0003a0001c0003t0004a0001c0005t0003 | a0001c0002t0003g0346 a0001c0003t0004g0228 a0001c0005t0003g0032 |
3 | 29 | 0.1034 | -18 | c.155 others(35): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10481351 | CTCCCGAG others(11): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0005a0001c0003t0008a0001c0005t0006 | a0001c0002t0005g0304 a0001c0003t0008g0027 a0001c0005t0006g0029 others(5): Show |
8 | 218 | 0.0367 | -18 | c.163 others(35): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14422312 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA19240.hp1 |
a0003 | a0003c0003 | a0003c0003t0014a0003c0003t0018 | a0003c0003t0014g0152 a0003c0003t0018g0156 |
2 | 35 | 0.0571 | -18 | c.-7- others(33): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14494284 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0078 | 1 | 122 | 0.0082 | -18 | c.328 others(37): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53626492 | AGGGGCCG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0082 | 1 | 328 | 0.0030 | -18 | c.-25 others(27): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 111 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82093487 | CCTCTAGC others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0095 | 1 | 224 | 0.0045 | -18 | c.216 others(37): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82138840 | TCCCTCCC others(11): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 a0001c0001t0003g0170 |
2 | 108 | 0.0185 | -18 | c.217 others(37): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46622076 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0110 others(3): Show |
6 | 28 | 0.2143 | -18 | c.-70 others(35): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402922 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 a0001c0001t0005g0054 |
2 | 324 | 0.0062 | -18 | c.222 others(35): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402924 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0038 | 1 | 305 | 0.0033 | -18 | c.222 others(35): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG16L1_chr2_233246673_233300669 | 233296631 | GTGTGTGT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0117 | 1 | 351 | 0.0028 | -18 | c.*22 others(29): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 963 | chr2 | TogoVar | |||||||
ATG16L1_chr2_233246673_233300669 | 233298814 | TTGTCTCT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02896.hp2 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0207 |
3 | 352 | 0.0085 | -18 | c.*44 others(29): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 3146 | chr2 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308239 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00738.hp1 others(11): Show |
a0001a0009 | a0001c0002a0001c0005a0001c0032others(1): Show | a0001c0002t0001a0001c0002t0053a0001c0002t0061others(3): Show | a0001c0002t0001g0257 a0001c0002t0001g0265 a0001c0002t0001g0272 others(11): Show |
14 | 353 | 0.0397 | -18 | c.430 others(37): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(39): Show |
71 | 76 | 0.9342 | -18 | c.667 others(33): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 5 | 0.2000 | -18 | c.815 others(35): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0246 a0001c0001t0001g0247 others(2): Show |
8 | 206 | 0.0388 | -18 | c.120 others(37): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861576 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01934.hp2 NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 a0001c0001t0005g0251 |
3 | 216 | 0.0139 | -18 | c.121 others(37): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861610 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0123 a0001c0001t0002g0159 a0001c0001t0003g0009 others(33): Show |
37 | 320 | 0.1156 | -18 | c.121 others(37): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01069.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0042 others(13): Show |
25 | 31 | 0.8065 | -18 | c.835 others(33): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |