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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASS1_chr9_130439961_130506274 | 130448422 | G | GCACACAC others(19): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 75 | 0.0133 | 26 | c.-6+ others(41): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149184 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 85 | 0.0118 | 26 | c.283 others(45): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149268 | A | AGTATATA others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0104 | 1 | 105 | 0.0095 | 26 | c.283 others(45): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149269 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02074.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0018a0001c0002t0002a0001c0005t0005others(2): Show | a0001c0001t0018g0053 a0001c0002t0002g0052 a0001c0005t0005g0057 others(2): Show |
5 | 91 | 0.0549 | 26 | c.283 others(45): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149383 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02258.hp2 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0018a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0018g0053 a0001c0002t0002g0052 a0001c0002t0002g0054 others(3): Show |
6 | 80 | 0.0750 | 26 | c.283 others(45): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116609379 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0006 | a0001c0001t0002g0040 a0002c0004t0006g0003 |
2 | 13 | 0.1538 | 26 | c.335 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718966 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 99 | 0.0101 | 26 | c.280 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01256.hp1 others(10): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0053 a0001c0001t0002g0050 a0001c0001t0003g0090 others(10): Show |
13 | 41 | 0.3171 | 26 | c.280 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 29 | 0.0345 | 26 | c.280 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0088 | 1 | 12 | 0.0833 | 26 | c.188 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116948785 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0081 | 1 | 6 | 0.1667 | 26 | c.188 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0062 a0001c0001t0006g0079 a0001c0001t0007g0078 others(3): Show |
6 | 11 | 0.5455 | 26 | c.159 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016703 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 | 1 | 100 | 0.0100 | 26 | c.142 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117108438 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0051 | 1 | 18 | 0.0556 | 26 | c.116 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116037 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp1 |
a0001a0002 | a0001c0011a0002c0004 | a0001c0011t0004a0002c0004t0002 | a0001c0011t0004g0097 a0002c0004t0002g0005 |
2 | 40 | 0.0500 | 26 | c.116 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120049 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0012 | 1 | 89 | 0.0112 | 26 | c.116 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0051 | 1 | 19 | 0.0526 | 26 | c.631 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATGTAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0056 a0001c0002t0002g0060 |
2 | 20 | 0.1000 | 26 | c.631 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATGTGT others(19): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 19 | 0.0526 | 26 | c.631 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225574 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0047 | 1 | 34 | 0.0294 | 26 | c.631 others(45): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32377972 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0013 | a0013c0013 | a0013c0013t0002 | a0013c0013t0002g0204 | 1 | 78 | 0.0128 | 26 | c.252 others(43): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0181 | 1 | 90 | 0.0111 | 26 | c.252 others(43): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0199 others(7): Show |
10 | 19 | 0.5263 | 26 | c.58- others(41): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0008 | a0001c0008t0017 | a0001c0008t0017g0025 | 1 | 101 | 0.0099 | 26 | c.55- others(41): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTTTATAT others(19): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0204 | 1 | 101 | 0.0099 | 26 | c.55- others(41): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33734044 | T | TGCTTTAG others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(143): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0016others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0040 others(143): Show |
146 | 182 | 0.8022 | 26 | c.977 others(41): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87798623 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0321 | 1 | 319 | 0.0031 | 26 | c.163 others(43): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18994.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0123 a0001c0001t0003g0101 a0001c0001t0003g0104 |
3 | 146 | 0.0205 | 26 | c.163 others(43): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23805795 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0122 | 1 | 107 | 0.0093 | 26 | c.245 others(45): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23808095 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 244 | 0.0041 | 26 | c.245 others(45): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0258 | 1 | 135 | 0.0074 | 26 | c.164 others(45): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03491.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0234 a0001c0001t0001g0247 |
3 | 49 | 0.0612 | 26 | c.320 others(43): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123389960 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 94 | 0.0106 | 26 | c.171 others(43): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 1/27 | chr8 | TogoVar | |||||||
ATAT1_chr6_30621874_30651821 | 30641106 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19065.hp2 NA19067.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0023 a0001c0002t0001g0061 a0002c0005t0001g0072 |
3 | 387 | 0.0078 | 26 | c.652 others(41): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATF4_chr22_39515562_39527683 | 39523993 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG02055.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 3 | 174 | 0.0172 | 26 | c.*13 others(37): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 1311 | chr22 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161920294 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 2 | 0.5000 | 26 | c.180 others(45): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53529734 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 305 | 0.0033 | 26 | c.927 others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 9/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53529734 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 others(2): Show |
5 | 309 | 0.0162 | 26 | c.927 others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 9/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587366 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01123.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0008a0002c0004t0001 | a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0277 others(8): Show |
11 | 99 | 0.1111 | 26 | c.48+ others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587820 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 304 | 0.0033 | 26 | c.48+ others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587843 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0086 others(1): Show |
4 | 208 | 0.0192 | 26 | c.48+ others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587843 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0095 a0001c0001t0009g0080 |
2 | 206 | 0.0097 | 26 | c.48+ others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587843 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 205 | 0.0049 | 26 | c.48+ others(43): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82118387 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01074.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(31): Show |
34 | 93 | 0.3656 | 26 | c.217 others(45): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46654281 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0044 | 1 | 155 | 0.0065 | 26 | c.459 others(43): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233289377 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01192.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0002a0002c0002t0016others(1): Show | a0001c0001t0003g0108 a0001c0001t0003g0162 a0002c0002t0002g0256 others(3): Show |
6 | 180 | 0.0333 | 26 | c.120 others(43): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233289408 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 281 | 0.0036 | 26 | c.120 others(43): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233289408 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02615.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 a0001c0001t0004g0140 a0001c0001t0004g0145 |
3 | 283 | 0.0106 | 26 | c.120 others(43): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233296608 | G | GGTGTGTG others(19): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 249 | 0.0040 | 26 | c.*22 others(37): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 940 | chr2 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96295727 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 55 | 0.0182 | 26 | c.514 others(43): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 34/41 | chr14 | TogoVar |