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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1009): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 153 | 0.0065 | 1016 | c.130 others(1035): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162442 | A | ATTATGTG others(1009): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0013 | a0003c0013t0003 | a0003c0013t0003g0049 | 1 | 217 | 0.0046 | 1016 | c.118 others(1035): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1009): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0022 | a0002c0022t0004 | a0002c0022t0004g0097 | 1 | 40 | 0.0250 | 1016 | c.118 others(1035): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(1009): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 17 | 0.0588 | 1016 | c.-47 others(1035): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1009): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 | 1 | 8 | 0.1250 | 1016 | c.285 others(1035): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1009): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 8 | 0.1250 | 1016 | c.285 others(1035): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1009): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0010 | a0010c0014 | a0010c0014t0007 | a0010c0014t0007g0269 | 1 | 8 | 0.1250 | 1016 | c.285 others(1035): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1009): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0195 a0001c0001t0007g0268 |
2 | 9 | 0.2222 | 1016 | c.285 others(1035): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1009): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0267 | 1 | 124 | 0.0081 | 1016 | c.166 others(1035): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(1009): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 302 | 0.0033 | 1016 | c.891 others(1033): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(1009): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0041 | a0002c0041t0002 | a0002c0041t0002g0164 | 1 | 3 | 0.3333 | 1016 | c.110 others(1033): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287088 | T | TACAATGT others(1009): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 439 | 0.0023 | 1016 | c.51+ others(1031): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(1009): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0250 a0001c0001t0010g0249 |
2 | 349 | 0.0057 | 1016 | c.51+ others(1031): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(1009): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 348 | 0.0029 | 1016 | c.51+ others(1031): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287152 | T | TACAATGT others(1009): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0245 | 1 | 344 | 0.0029 | 1016 | c.51+ others(1031): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1009): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 2 | 0.5000 | 1016 | c.44- others(1029): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1009): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0119 | 1 | 83 | 0.0120 | 1016 | c.724 others(1035): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478086 | G | GGGGAAAA others(1009): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0084 | 1 | 82 | 0.0122 | 1016 | c.158 others(1033): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(1009): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0212 | 1 | 276 | 0.0036 | 1016 | c.228 others(1033): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1009): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0006 | a0006c0071 | a0006c0071t0001 | a0006c0071t0001g0236 | 1 | 259 | 0.0039 | 1016 | c.228 others(1033): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(1009): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0288 | 1 | 353 | 0.0028 | 1016 | c.-50 others(1027): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1009): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0020 | a0004c0020t0004 | a0004c0020t0004g0072 | 1 | 324 | 0.0031 | 1016 | c.-50 others(1027): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1009): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0279 | 1 | 137 | 0.0073 | 1016 | c.-14 others(1035): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1009): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0016others(10): Show | a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0044 others(53): Show |
57 | 90 | 0.6333 | 1016 | c.-8- others(1031): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1009): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00642.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(6): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 others(50): Show |
53 | 86 | 0.6163 | 1016 | c.-8- others(1031): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1009): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 34 | 0.0294 | 1016 | c.-8- others(1031): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(1009): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 204 | 0.0049 | 1016 | c.-36 others(1027): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926744 | G | GGAAGGAG others(1009): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 267 | 0.0037 | 1016 | c.250 others(1031): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295565 | C | CAGAGAGA others(1009): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 67 | 0.0149 | 1016 | c.-52 others(1037): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1009): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 294 | 0.0034 | 1016 | c.-72 others(1025): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1009): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0069 | 1 | 30 | 0.0333 | 1016 | c.433 others(1033): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(1009): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0036 | 1 | 247 | 0.0040 | 1016 | c.-49 others(1027): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1009): Show |
intron_variant | MODIFIER | HG01346.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0013 | a0001c0001t0003g0248 a0001c0004t0013g0327 |
2 | 3 | 0.6667 | 1016 | c.438 others(1033): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1009): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01928.hp2 HG01975.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0235 a0001c0001t0003g0189 a0001c0001t0004g0185 others(7): Show |
10 | 11 | 0.9091 | 1016 | c.438 others(1033): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1009): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 28 | 0.0357 | 1016 | c.-50 others(1027): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1009): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 80 | 0.0125 | 1016 | c.*64 others(1027): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1009): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 161 | 0.0062 | 1016 | c.113 others(1033): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1009): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0163 | 1 | 161 | 0.0062 | 1016 | c.113 others(1033): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1009): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 a0001c0001t0002g0111 |
2 | 162 | 0.0123 | 1016 | c.113 others(1033): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(1009): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0226 | 1 | 256 | 0.0039 | 1016 | c.189 others(1031): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TTLL5_chr14_75656246_75960079 | 75729454 | T | TAAAAGGT others(1009): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0001 | 1 | 196 | 0.0051 | 1016 | c.104 others(1035): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1010): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0072 |
2 | 9 | 0.2222 | 1017 | c.285 others(1036): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1010): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 8 | 0.1250 | 1017 | c.285 others(1036): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1010): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0177 | 1 | 72 | 0.0139 | 1017 | c.273 others(1034): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1010): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0117 | 1 | 152 | 0.0066 | 1017 | c.217 others(1036): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0124 | 1 | 223 | 0.0045 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG01952.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0048 | a0001c0002t0006a0001c0004t0006a0001c0004t0029others(2): Show | a0001c0002t0006g0014 a0001c0004t0006g0058 a0001c0004t0006g0061 others(6): Show |
9 | 231 | 0.0390 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0028 | a0002c0003t0028g0233 | 1 | 223 | 0.0045 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0203 | 1 | 223 | 0.0045 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1010): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 97 | 0.0103 | 1017 | c.245 others(1034): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar |