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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(1019): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0152 | 1 | 141 | 0.0071 | 1026 | c.282 others(1045): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1019): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp2 |
a0003 | a0003c0019a0003c0026 | a0003c0019t0002a0003c0026t0002 | a0003c0019t0002g0242 a0003c0026t0002g0240 a0003c0026t0002g0241 |
3 | 231 | 0.0130 | 1026 | c.228 others(1043): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1019): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0239 | 1 | 229 | 0.0044 | 1026 | c.228 others(1043): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1019): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02145.hp2 |
a0006a0018 | a0006c0010a0018c0031 | a0006c0010t0009a0018c0031t0019 | a0006c0010t0009g0077 a0018c0031t0019g0010 a0018c0031t0019g0069 |
3 | 291 | 0.0103 | 1026 | c.-49 others(1037): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1019): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0010 | a0010c0036 | a0010c0036t0006 | a0010c0036t0006g0067 | 1 | 289 | 0.0035 | 1026 | c.-49 others(1037): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01070.hp2 others(29): Show |
a0001a0006a0009 | a0001c0002a0001c0024a0001c0027others(3): Show | a0001c0002t0002a0001c0002t0013a0001c0002t0015others(5): Show | a0001c0002t0002g0001 a0001c0002t0002g0195 a0001c0002t0002g0271 others(25): Show |
32 | 168 | 0.1905 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0028 | a0012c0028t0002 | a0012c0028t0002g0245 | 1 | 137 | 0.0073 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 137 | 0.0073 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0330 | 1 | 137 | 0.0073 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0095 | 1 | 137 | 0.0073 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0096 others(2): Show |
7 | 143 | 0.0490 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 137 | 0.0073 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGGAA others(1019): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 234 | 0.0043 | 1026 | c.157 others(1043): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1019): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0082 | 1 | 46 | 0.0217 | 1026 | c.487 others(1041): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1019): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0076 | 1 | 46 | 0.0217 | 1026 | c.487 others(1041): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(1019): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 231 | 0.0043 | 1026 | c.-25 others(1043): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(1019): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 231 | 0.0043 | 1026 | c.-25 others(1043): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCCT others(1019): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 13 | 0.0769 | 1026 | c.-79 others(1035): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
LOC102725191_chr7_12499441_12546270 | 12528282 | A | ACTTTCCT others(1019): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01516.hp2 HG02976.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0006 a0003c0003t0002g0175 a0003c0003t0002g0306 others(3): Show |
9 | 234 | 0.0385 | 1026 | c.545 others(1041): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583540 | A | ACAGCCAC others(1019): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 230 | 0.0043 | 1026 | c.377 others(1043): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1019): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 174 | 0.0057 | 1026 | c.377 others(1043): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877016 | T | TAGGGAGG others(1019): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 241 | 0.0041 | 1026 | c.224 others(1045): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MPG_chr16_73225_90846 | 82002 | G | GGGAAGGC others(1019): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 427 | 0.0023 | 1026 | c.301 others(1043): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1861843 | G | GCAGCCTG others(1019): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0086 | 1 | 102 | 0.0098 | 1026 | c.271 others(1047): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124138667 | T | TTAATATT others(1019): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 18 | 0.0556 | 1026 | c.55- others(1045): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 82002 | G | GGGAAGGC others(1019): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0029 | 1026 | c.*47 others(1037): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3383 | chr16 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(1019): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 56 | 0.0179 | 1026 | c.62- others(1045): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(1019): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 | 1 | 56 | 0.0179 | 1026 | c.62- others(1045): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1019): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 16 | 0.0625 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(1019): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0019 | 1 | 16 | 0.0625 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(1019): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0015 | a0001c0001t0005g0005 a0001c0001t0014g0034 a0001c0001t0015g0033 |
4 | 19 | 0.2105 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 393 | 0.0025 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18973.hp1 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0042 |
5 | 397 | 0.0126 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 394 | 0.0051 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OTOG_chr11_17542259_17651044 | 17552531 | C | CCCCACCT others(1019): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0125 | a0125c0135 | a0125c0135t0001 | a0125c0135t0001g0262 | 1 | 240 | 0.0042 | 1026 | c.292 others(1041): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1019): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0071 | a0003c0071t0001 | a0003c0071t0001g0266 | 1 | 245 | 0.0041 | 1026 | c.371 others(1043): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1019): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0131 | 1 | 250 | 0.0040 | 1026 | c.126 others(1045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1019): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 | 1 | 250 | 0.0040 | 1026 | c.126 others(1045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(1019): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 218 | 0.0046 | 1026 | c.*44 others(1037): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744487 | C | CCCTGGCT others(1019): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0136 | 1 | 154 | 0.0065 | 1026 | c.655 others(1043): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1019): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0003g0142 a0001c0001t0007g0108 a0001c0001t0010g0122 others(1): Show |
4 | 6 | 0.6667 | 1026 | c.29- others(1041): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1019): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0019a0001c0001t0054others(2): Show | a0001c0001t0003g0060 a0001c0001t0019g0059 a0001c0001t0019g0190 others(3): Show |
6 | 8 | 0.7500 | 1026 | c.29- others(1041): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971457 | T | TGCTGAGG others(1019): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0100 | 1 | 297 | 0.0034 | 1026 | c.157 others(1045): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431930 | A | ATAGGGTG others(1019): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 354 | 0.0028 | 1026 | c.101 others(1045): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1019): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 46 | 0.0217 | 1026 | c.148 others(1045): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 | 1 | 132 | 0.0076 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0124 | 1 | 132 | 0.0076 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0131 | 1 | 132 | 0.0076 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1019): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 1026 | c.-50 others(1037): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0019a0004c0003others(6): Show | a0001c0001t0001a0001c0019t0094a0001c0019t0100others(10): Show | a0001c0001t0001g0264 a0001c0019t0094g0057 a0001c0019t0100g0302 others(16): Show |
19 | 108 | 0.1759 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar |