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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(770): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 777 | c.-70 others(786): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(770): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 777 | c.-70 others(786): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(770): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 777 | c.-70 others(786): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(770): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 777 | c.-70 others(786): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(770): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 777 | c.-70 others(786): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410796 | C | CCGGATCC others(770): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0123 | 1 | 322 | 0.0031 | 777 | c.-18 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1650 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411082 | C | CCTGCTGG others(770): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 2 | 322 | 0.0062 | 777 | c.-21 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1936 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411203 | C | CCGGATCC others(770): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 322 | 0.0031 | 777 | c.-22 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2057 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411244 | A | ATCCTGGG others(770): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0042 | a0001c0001t0025g0021 a0001c0001t0042g0035 |
2 | 322 | 0.0062 | 777 | c.-22 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2098 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(770): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 777 | c.-23 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(770): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0105 | 1 | 322 | 0.0031 | 777 | c.-23 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(770): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0085 | 1 | 322 | 0.0031 | 777 | c.-23 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(770): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 NA18612.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 | 3 | 322 | 0.0093 | 777 | c.-23 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411314 | C | CCGGATCC others(770): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0013 | a0001c0013t0040 | a0001c0013t0040g0121 | 1 | 322 | 0.0031 | 777 | c.-23 others(788): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2168 | chr19 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGA others(770): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0025 | a0025c0023 | a0025c0023t0001 | a0025c0023t0001g0320 | 1 | 346 | 0.0029 | 777 | c.963 others(794): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138018008 | T | TCAGGTGC others(770): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0014 | 1 | 248 | 0.0040 | 777 | c.226 others(796): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138018156 | C | CCAGGTGC others(770): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0202 | 1 | 248 | 0.0040 | 777 | c.226 others(796): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215628 | G | GCACTGCA others(770): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043 | 1 | 252 | 0.0040 | 777 | c.-28 others(788): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2787 | chr17 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGGGGGGC others(770): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 a0001c0002t0001g0036 |
2 | 342 | 0.0059 | 777 | c.844 others(794): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGGGGGGC others(770): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0029 | 1 | 342 | 0.0029 | 777 | c.844 others(794): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGGGGGGC others(770): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01256.hp1 others(21): Show |
a0002a0004 | a0002c0004a0004c0009 | a0002c0004t0001a0004c0009t0001 | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0011 others(17): Show |
24 | 342 | 0.0702 | 777 | c.844 others(794): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGGGGGGC others(770): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 342 | 0.0029 | 777 | c.844 others(794): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(770): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 777 | c.101 others(796): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911548 | G | GGGGGGTC others(770): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03195.hp1 |
a0057a0058a0059 | a0057c0040a0058c0037a0059c0051 | a0057c0040t0001a0058c0037t0001a0059c0051t0001 | a0057c0040t0001g0017 a0058c0037t0001g0130 a0059c0051t0001g0039 |
3 | 170 | 0.0177 | 777 | c.101 others(796): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315794 | A | ACACACCC others(770): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 250 | 0.0040 | 777 | c.259 others(796): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261858 | T | TGTGCTCC others(770): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 292 | 0.0034 | 777 | c.571 others(794): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262021 | G | GTGACCCT others(770): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01993.hp2 HG02280.hp2 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0017others(1): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0002c0002t0001g0041 a0002c0002t0002g0043 a0003c0003t0001g0204 others(2): Show |
5 | 292 | 0.0171 | 777 | c.571 others(794): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262021 | G | GTGACCCT others(770): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 292 | 0.0034 | 777 | c.571 others(794): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262243 | G | GTGACCCT others(770): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 292 | 0.0034 | 777 | c.571 others(794): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(770): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 a0001c0001t0003g0094 |
2 | 292 | 0.0069 | 777 | c.*49 others(788): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(770): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18942.hp1 NA18948.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0209 a0001c0001t0001g0211 others(3): Show |
8 | 275 | 0.0291 | 777 | c.278 others(796): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586454 | G | GGGGAAAG others(770): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0250 | 1 | 308 | 0.0033 | 777 | c.157 others(794): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544876 | C | CCACCATC others(770): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0121 | 1 | 134 | 0.0075 | 777 | c.520 others(798): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323052 | T | TATATATA others(770): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 777 | c.-20 others(788): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1917 | chr21 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(770): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 380 | 0.0026 | 777 | c.507 others(794): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(770): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0088 | 1 | 370 | 0.0027 | 777 | c.-27 others(788): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(770): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 777 | c.-27 others(788): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(770): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 2 | 370 | 0.0054 | 777 | c.-27 others(788): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATATAAA others(770): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 260 | 0.0039 | 777 | c.125 others(794): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858589 | G | GAGTGGTG others(770): Show |
intron_variant | MODIFIER | HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0006a0001c0020 | a0001c0006t0001a0001c0020t0001 | a0001c0006t0001g0290 a0001c0020t0001g0100 |
2 | 294 | 0.0068 | 777 | c.153 others(796): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(770): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show |
4 | 228 | 0.0175 | 777 | c.337 others(796): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544366 | G | GGGGACAG others(770): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0232 | 1 | 286 | 0.0035 | 777 | c.153 others(796): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(770): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 140 | 0.0071 | 777 | c.114 others(796): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(770): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 394 | 0.0025 | 777 | c.-8+ others(790): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(770): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 394 | 0.0025 | 777 | c.-8+ others(790): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(770): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 394 | 0.0025 | 777 | c.-8+ others(790): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(770): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 394 | 0.0025 | 777 | c.-8+ others(790): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(770): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 394 | 0.0025 | 777 | c.-8+ others(790): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543918 | G | GTGGTGGT others(770): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 342 | 0.0029 | 777 | c.152 others(794): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(770): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 324 | 0.0031 | 777 | c.140 others(794): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |