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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCL1_chr12_102952674_102965513 | 102962421 | T | TTCTTTCT others(12): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | 19 | c.*31 others(30): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1909 | chr12 | TogoVar | ||||||
ASCL2_chr11_2263498_2275588 | 2271501 | C | CCGGGCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 420 | 0.0024 | 19 | c.-11 others(30): Show |
ASCL2 | ENSG00000183734.5 | transcript | ENST00000331289.5 | protein_coding | 914 | chr11 | TogoVar | ||||||
ASCL4_chr12_107769704_107781644 | 107779932 | G | GTTCAAGA others(12): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 462 | 0.0022 | 19 | c.*41 others(30): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 3289 | chr12 | TogoVar | ||||||
ASF1A_chr6_118889152_118914171 | 118893922 | T | TCCCGCCG others(12): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01069.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0014a0001c0001t0003g0019others(8): Show | 55 | 400 | 0.1375 | 19 | c.-49 others(28): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 229 | chr6 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38102027 | T | TGAGGCAG others(12): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0224 | 2 | 330 | 0.0061 | 19 | c.-35 others(30): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3501 | chr8 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219523017 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0152 | 1 | 372 | 0.0027 | 19 | c.582 others(36): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1443140 | C | CACCGCCG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(65): Show |
a0000a0001a0002others(8): Show | a0000c0007a0001c0001a0001c0008others(13): Show | a0000c0007t0001a0001c0001t0001a0001c0008t0001others(13): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(65): Show | 68 | 185 | 0.3676 | 19 | c.94- others(32): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1443594 | T | TTGGACAG others(12): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0097 | 1 | 185 | 0.0054 | 19 | c.94- others(34): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGGTGTGT others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 | 1 | 258 | 0.0039 | 19 | c.176 others(38): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0186 | 2 | 258 | 0.0078 | 19 | c.103 others(38): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02976.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0133a0001c0003t0001g0178others(3): Show | 6 | 296 | 0.0203 | 19 | c.-18 others(30): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362561 | T | TATAAAAT others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01978.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0030 | a0001c0001t0002g0267a0001c0001t0002g0271a0001c0001t0002g0272others(11): Show | 14 | 370 | 0.0378 | 19 | c.491 others(36): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130483801 | T | TTTCCTCC others(12): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 374 | 0.0027 | 19 | c.838 others(36): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASTN1_chr1_176856067_177169712 | 176885969 | G | GAATAGAC others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0054 | 1 | 112 | 0.0089 | 19 | c.307 others(38): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 18/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116490272 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0047 | 1 | 102 | 0.0098 | 19 | c.335 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 102 | 0.0098 | 19 | c.307 others(40): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803523 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0102 | 1 | 102 | 0.0098 | 19 | c.239 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0013t0009 | a0001c0001t0005g0096a0001c0013t0009g0072 | 2 | 102 | 0.0196 | 19 | c.188 others(40): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116948785 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02698.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(2): Show | a0001c0001t0002g0070a0001c0002t0003g0041a0001c0003t0003g0030others(2): Show | 5 | 102 | 0.0490 | 19 | c.188 others(40): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378003 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0197 | 1 | 282 | 0.0036 | 19 | c.252 others(36): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32379161 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123 | 2 | 282 | 0.0071 | 19 | c.252 others(38): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33590111 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01192.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0007g0025a0001c0001t0008g0020a0001c0001t0008g0022others(12): Show | 15 | 220 | 0.0682 | 19 | c.54+ others(36): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33676222 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0012 | a0001c0001a0001c0018a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0089others(12): Show | 15 | 220 | 0.0682 | 19 | c.715 others(36): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATAD1_chr10_87746512_87823226 | 87819263 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 360 | 0.0028 | 19 | c.-11 others(30): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 1038 | chr10 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878010 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 246 | 0.0041 | 19 | c.902 others(36): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 246 | 0.0041 | 19 | c.902 others(36): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02074.hp2 HG03130.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0002a0001c0006t0001a0002c0004t0003others(1): Show | a0001c0001t0002g0032a0001c0006t0001g0161a0002c0004t0003g0005others(1): Show | 4 | 278 | 0.0144 | 19 | c.320 others(36): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | T | TAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0173 | a0002c0002t0173g0329 | 1 | 410 | 0.0024 | 19 | c.*58 others(28): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 607 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ATAD3C_chr1_1444689_1475163 | 1472097 | C | CGGCGGGG others(12): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0122 | a0002c0002t0122g0107 | 1 | 410 | 0.0024 | 19 | c.*35 others(30): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 1935 | chr1 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3914235 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 384 | 0.0026 | 19 | c.965 others(34): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATF2_chr2_175067259_175173203 | 175163918 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 224 | 0.0045 | 19 | c.-14 others(38): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14364123 | C | CACCACGA others(12): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 346 | 0.0029 | 19 | c.-17 others(30): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1558 | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53535328 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0024a0001c0001t0002g0112a0001c0001t0002g0115others(7): Show | 10 | 330 | 0.0303 | 19 | c.403 others(34): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53587844 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0265others(5): Show | 8 | 330 | 0.0242 | 19 | c.48+ others(36): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53599053 | A | ACAGTGTC others(12): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0169 | 1 | 330 | 0.0030 | 19 | c.48+ others(34): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53628150 | A | AAATAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 330 | 0.0030 | 19 | c.-18 others(30): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1769 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993310 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 226 | 0.0044 | 19 | c.108 others(36): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0094 | 1 | 226 | 0.0044 | 19 | c.108 others(36): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18972.hp1 NA18986.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0175a0003c0003t0001g0176a0003c0003t0001g0199others(1): Show | 4 | 226 | 0.0177 | 19 | c.217 others(38): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82121941 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0139a0001c0001t0012g0142 | 2 | 226 | 0.0089 | 19 | c.217 others(38): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82161696 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0048 | 1 | 226 | 0.0044 | 19 | c.217 others(36): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82258953 | C | CACACACA others(12): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0120 | 1 | 226 | 0.0044 | 19 | c.*48 others(30): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2821 | chr5 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402926 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 366 | 0.0027 | 19 | c.222 others(36): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308364 | A | AACCTCCG others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 HG02523.hp2 others(9): Show |
a0004 | a0004c0006a0004c0041 | a0004c0006t0010a0004c0006t0013a0004c0041t0063 | a0004c0006t0010g0333a0004c0006t0010g0334a0004c0006t0010g0335others(8): Show | 12 | 356 | 0.0337 | 19 | c.430 others(38): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18969.hp1 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0005a0001c0002t0013others(1): Show | a0001c0002t0003g0173a0001c0002t0005g0080a0001c0002t0013g0079others(1): Show | 4 | 410 | 0.0098 | 19 | c.10+ others(34): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241675481 | G | GTTGCAAT others(12): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0066 | 1 | 410 | 0.0024 | 19 | c.*32 others(30): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1625 | chr2 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62791870 | A | ATGCTCCT others(12): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 322 | 0.0031 | 19 | c.-69 others(36): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10548003 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 406 | 0.0025 | 19 | c.835 others(34): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0007a0001c0002t0037a0002c0003t0008others(4): Show | a0001c0002t0007g0174a0001c0002t0037g0171a0002c0003t0008g0275others(6): Show | 9 | 292 | 0.0308 | 19 | c.187 others(38): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11475908 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 292 | 0.0034 | 19 | c.207 others(40): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar |