| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132241454 | C | CTCCCTAT others(443): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0046 | 1 | 183 | 0.0055 | 450 | c.107 others(469): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241677 | C | CCCTCCCT others(443): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 183 | 0.0055 | 450 | c.107 others(469): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(443): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0180 | 1 | 183 | 0.0055 | 450 | c.107 others(469): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132243053 | C | CCACACAC others(443): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0124 | 1 | 183 | 0.0055 | 450 | c.107 others(469): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALP_chr19_56171008_56190775 | 56176046 | C | CTGCCAGC others(443): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0026 | 1 | 444 | 0.0023 | 450 | c.-40 others(463): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308256 | C | CCATCATC others(443): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130 | 1 | 422 | 0.0024 | 450 | c.961 others(467): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| GLIS1_chr1_53501239_53744164 | 53525463 | A | AGGCTGGG others(443): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0005 | a0005c0013 | a0005c0013t0006 | a0005c0013t0006g0011 | 1 | 236 | 0.0042 | 450 | c.148 others(467): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
| GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(443): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 290 | 0.0035 | 450 | c.972 others(465): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(443): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0241 | 1 | 290 | 0.0035 | 450 | c.972 others(465): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATA others(443): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0246 | 1 | 418 | 0.0024 | 450 | c.167 others(467): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 321575 | A | ACCAGCAT others(443): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0020 | 1 | 155 | 0.0065 | 450 | c.-27 others(461): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2780 | chrX | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 321575 | A | ACCAGCAT others(443): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02735.hp2 NA19057.hp2 |
a0005a0008 | a0005c0010a0005c0019a0008c0008 | a0005c0010t0001a0005c0019t0001a0008c0008t0001 | a0005c0010t0001g0019 a0005c0019t0001g0022 a0008c0008t0001g0021 |
3 | 155 | 0.0194 | 450 | c.-27 others(461): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2780 | chrX | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 321751 | C | CAAAAAAA others(443): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0017 | 1 | 155 | 0.0065 | 450 | c.-29 others(461): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2956 | chrX | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(443): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0013 | a0013c0015 | a0013c0015t0014 | a0013c0015t0014g0032 | 1 | 134 | 0.0075 | 450 | c.520 others(471): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HUWE1_chrX_53527096_53691719 | 53578334 | A | ACCCCGTC others(443): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 214 | 0.0047 | 450 | c.571 others(469): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | |||||||
| HUWE1_chrX_53527096_53691719 | 53578835 | G | GCCCCGTC others(443): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 214 | 0.0047 | 450 | c.571 others(469): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322202 | T | TATGGAAT others(443): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 323 | 0.0031 | 450 | c.-28 others(461): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2767 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322202 | T | TATGGAAT others(443): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 323 | 0.0031 | 450 | c.-28 others(461): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2767 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322753 | T | TATGGAAT others(443): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 450 | c.-23 others(461): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2216 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(443): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 323 | 0.0031 | 450 | c.-21 others(461): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
| IRAG2_chr12_25047706_25113335 | 25077361 | G | GTGAAATA others(443): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 HG03471.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 others(1): Show |
4 | 344 | 0.0116 | 450 | c.25- others(465): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | chr12 | TogoVar | |||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406526 | A | AGTGTGTG others(443): Show |
3_prime_UTR_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0025 | 1 | 276 | 0.0036 | 450 | c.*30 others(459): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 307 | chr2 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(443): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 158 | 0.0063 | 450 | c.*11 others(471): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(443): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0117 | 1 | 158 | 0.0063 | 450 | c.*11 others(471): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA others(443): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19078.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0176 a0003c0003t0001g0203 |
2 | 310 | 0.0065 | 450 | c.448 others(469): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
| JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA others(443): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0196 | 1 | 310 | 0.0032 | 450 | c.448 others(469): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(443): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 312 | 0.0032 | 450 | c.-41 others(465): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(443): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0262 a0001c0001t0002g0240 |
2 | 322 | 0.0062 | 450 | c.283 others(469): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
| KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(443): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 322 | 0.0031 | 450 | c.283 others(469): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
| KIAA0930_chr22_45187244_45245894 | 45228779 | C | CTACCACC others(443): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0183 | a0001c0001t0183g0145 | 1 | 398 | 0.0025 | 450 | c.64+ others(467): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(443): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0284 | 1 | 375 | 0.0027 | 450 | c.-19 others(461): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(443): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0275 | 1 | 375 | 0.0027 | 450 | c.-19 others(461): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
| KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(443): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0080 | 1 | 242 | 0.0041 | 450 | c.174 others(469): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| KLHL23_chr2_169728832_169756878 | 169738992 | T | TCTCCCCC others(443): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 400 | 0.0025 | 450 | c.121 others(469): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349509 | G | GGACGCAG others(443): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 HG03831.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0160 |
3 | 462 | 0.0065 | 450 | c.*57 others(461): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1874 | chr19 | TogoVar | |||||||
| LAIR1_chr19_54346384_54369931 | 54349509 | G | GGACGCAG others(443): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0089 |
3 | 462 | 0.0065 | 450 | c.*57 others(461): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1874 | chr19 | TogoVar | |||||||
| LDLRAD4_chr18_13213760_13657751 | 13262828 | T | TGGGGCTG others(443): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0059 | 1 | 178 | 0.0056 | 450 | c.-46 others(471): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960326 | C | CACAGACT others(443): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0117 a0009c0024t0001g0118 |
2 | 294 | 0.0068 | 450 | c.194 others(467): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACGTAC others(443): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0006 | a0001c0006t0055 | a0001c0006t0055g0211 | 1 | 296 | 0.0034 | 450 | c.368 others(467): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(443): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0038 | a0001c0001t0001g0002 a0001c0001t0013g0002 a0001c0001t0038g0002 |
8 | 414 | 0.0193 | 450 | c.-43 others(461): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | |||||||
| LRRC14_chr8_144512992_144530172 | 144513804 | G | GAGGGGTC others(443): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0001 | 1 | 414 | 0.0024 | 450 | c.-43 others(461): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4187 | chr8 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364730 | A | ACCCGCAC others(443): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0015 | 1 | 290 | 0.0035 | 450 | c.129 others(467): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC36_chr16_67321815_67390204 | 67341007 | G | GTATTCTA others(443): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02027.hp2 HG02258.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0119 others(2): Show |
5 | 194 | 0.0258 | 450 | c.71- others(463): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(443): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 116 | 0.0086 | 450 | c.62+ others(469): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113011921 | C | CGGTGGAC others(443): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0018 | 1 | 116 | 0.0086 | 450 | c.80- others(465): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583540 | A | ACAGCCAC others(443): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0054 | 1 | 292 | 0.0034 | 450 | c.377 others(467): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
| MFSD3_chr8_144504070_144516213 | 144513791 | C | CGTGGGGA others(443): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 450 | c.*26 others(461): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2579 | chr8 | TogoVar | |||||||
| MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(443): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 400 | 0.0200 | 450 | c.*26 others(461): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | |||||||
| MFSD3_chr8_144504070_144516213 | 144513804 | G | GAGGGGTC others(443): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 400 | 0.0025 | 450 | c.*26 others(461): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2592 | chr8 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17876874 | G | GGGAAGTT others(443): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0244 | 1 | 274 | 0.0037 | 450 | c.224 others(469): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar |