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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15493362 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0212 a0002c0002t0004g0208 a0002c0002t0004g0209 |
3 | 106 | 0.0283 | 18 | c.409 others(37): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529636 | A | ATATATAC others(11): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 232 | 0.0043 | 18 | c.409 others(37): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140580003 | G | GAGCCCAC others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(40): Show | a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0244 others(60): Show |
63 | 336 | 0.1875 | 18 | c.215 others(35): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 2/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140594825 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG01106.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0029others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0071 a0001c0001t0001g0076 others(16): Show |
19 | 210 | 0.0905 | 18 | c.23- others(33): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140635590 | G | GCCGGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0004 | a0001c0004t0140 | a0001c0004t0140g0336 | 1 | 336 | 0.0030 | 18 | c.-10 others(26): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/19 | 85 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 147 | 0.0068 | 18 | c.659 others(33): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35841811 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03017.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0004g0250 a0001c0001t0011g0007 a0001c0001t0012g0253 others(1): Show |
5 | 28 | 0.1786 | 18 | c.217 others(33): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43917868 | T | TGTTGTGG others(11): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0187 | 1 | 338 | 0.0030 | 18 | c.-49 others(37): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161124979 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0026 | 1 | 253 | 0.0040 | 18 | c.*11 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4987 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161153834 | T | TAGCCCTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0083 | a0001c0001t0003g0039 a0001c0001t0011g0020 a0001c0001t0011g0021 others(5): Show |
8 | 236 | 0.0339 | 18 | c.510 others(33): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161205761 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0009 | 1 | 53 | 0.0189 | 18 | c.178 others(37): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219835 | A | ATATAGAT others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0037a0001c0001t0038 | a0001c0001t0008g0210 a0001c0001t0037g0213 a0001c0001t0038g0209 |
3 | 262 | 0.0115 | 18 | c.178 others(37): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01258.hp1 HG01516.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0003g0227 a0001c0001t0006g0228 a0001c0001t0011g0023 others(5): Show |
8 | 140 | 0.0571 | 18 | c.178 others(35): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161272705 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022a0001c0001t0046others(1): Show | a0001c0001t0021g0142 a0001c0001t0022g0141 a0001c0001t0046g0026 others(1): Show |
4 | 138 | 0.0290 | 18 | c.-90 others(35): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177414897 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18947.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0125 a0001c0001t0001g0177 a0001c0001t0023g0176 |
3 | 42 | 0.0714 | 18 | c.261 others(35): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GGGTATAT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0016a0001c0002t0013 | a0001c0001t0005g0106 a0001c0001t0016g0214 a0001c0002t0013g0185 |
3 | 12 | 0.2500 | 18 | c.441 others(33): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GGGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 10 | 0.1000 | 18 | c.441 others(33): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 10 | 0.1000 | 18 | c.441 others(33): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16791088 | G | GGAGGGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0082 | 1 | 439 | 0.0023 | 18 | c.*18 others(29): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 722 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16791101 | G | GAGGGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01109.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0051 others(15): Show |
25 | 449 | 0.0557 | 18 | c.*18 others(29): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 709 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1054431 | C | CCTCCCTG others(11): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | HG02896.hp2 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0015 | 1 | 208 | 0.0048 | 18 | c.587 others(30): Show |
p.Arg others(33): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 35/36 | 5932/7326 | 5879/6138 | 1960/2045 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 234 | 0.0043 | 18 | c.-46 others(29): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0294 a0001c0004t0008g0326 |
2 | 87 | 0.0230 | 18 | c.*58 others(29): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | C | CCCGCCGC others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 127 | 0.0079 | 18 | c.-8+ others(29): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129267230 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0017 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 others(3): Show |
6 | 258 | 0.0233 | 18 | c.363 others(37): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(22): Show |
25 | 168 | 0.1488 | 18 | c.364 others(37): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27595450 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0013 | 1 | 135 | 0.0074 | 18 | c.-62 others(37): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 72 | 0.0139 | 18 | c.316 others(39): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp2 others(18): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0016a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0060 others(18): Show |
21 | 61 | 0.3443 | 18 | c.135 others(35): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318230 | T | TCTCCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 NA18962.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0006 | a0001c0001t0005g0051 a0002c0002t0006g0007 |
2 | 253 | 0.0079 | 18 | c.-36 others(29): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3483 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340664 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0007 | a0007c0007t0023 | a0007c0007t0023g0224 | 1 | 218 | 0.0046 | 18 | c.-10 others(35): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0047 | 1 | 103 | 0.0097 | 18 | c.-10 others(35): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345382 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02109.hp2 others(11): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0007a0004c0003t0009a0004c0003t0022others(5): Show | a0004c0003t0007g0237 a0004c0003t0007g0241 a0004c0003t0007g0244 others(11): Show |
14 | 246 | 0.0569 | 18 | c.62+ others(33): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 397871 | T | TAGCCCCT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0029a0002c0002t0006a0002c0002t0019others(3): Show | a0001c0001t0029g0012 a0002c0002t0006g0007 a0002c0002t0019g0009 others(10): Show |
15 | 266 | 0.0564 | 18 | c.352 others(37): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 | 1 | 13 | 0.0769 | 18 | c.*66 others(29): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 101 | 0.0099 | 18 | c.290 others(35): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70132764 | G | GGCTCCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03209.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0002t0056 | a0001c0001t0055g0375 a0001c0002t0056g0374 |
2 | 333 | 0.0060 | 18 | c.-62 others(25): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/9 | 8681 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | A | AAGAGAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 55 | 0.0182 | 18 | c.-37 others(27): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0242 | 1 | 25 | 0.0400 | 18 | c.-38 others(29): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143524 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 191 | 0.0052 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 | 1 | 66 | 0.0152 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0139 a0001c0002t0001g0035 a0001c0002t0001g0040 others(2): Show |
5 | 70 | 0.0714 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0039 a0001c0002t0002g0029 |
2 | 67 | 0.0299 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0145 a0001c0001t0003g0105 a0001c0001t0007g0016 others(1): Show |
4 | 69 | 0.0580 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03453.hp1 NA18957.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0009 | a0001c0002t0001g0026 a0001c0002t0001g0051 a0001c0002t0002g0045 others(1): Show |
4 | 69 | 0.0580 | 18 | c.297 others(35): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009964 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0047 | 1 | 435 | 0.0023 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009968 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0359 | 1 | 397 | 0.0025 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009972 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0346 a0001c0002t0001g0252 |
2 | 352 | 0.0057 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 47 | 0.0213 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01192.hp2 HG02129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0105 |
3 | 49 | 0.0612 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |