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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1882): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(56): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0040 others(56): Show |
59 | 131 | 0.4504 | 1889 | c.-56 others(1908): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251150 | A | ACATCTCC others(1882): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0049 | 1 | 87 | 0.0115 | 1889 | c.207 others(1908): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393238 | C | CCTCTCTC others(1882): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0134 | 1 | 151 | 0.0066 | 1889 | c.107 others(1908): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393252 | T | TCTCTCTC others(1882): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0007 | 1 | 151 | 0.0066 | 1889 | c.107 others(1908): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1882): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 326 | 0.0031 | 1889 | c.119 others(1906): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803088 | C | CCCAGGGC others(1882): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 289 | 0.0035 | 1889 | c.-51 others(1900): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4859 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1882): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 187 | 0.0053 | 1889 | c.-50 others(1900): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(1882): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 120 | 0.0083 | 1889 | c.-49 others(1900): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3693924 | C | CCTCCTCC others(1882): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0227 | 1 | 342 | 0.0029 | 1889 | c.186 others(1908): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3438060 | A | ATCACCCC others(1882): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0025 | a0002c0025t0002 | a0002c0025t0002g0166 | 1 | 159 | 0.0063 | 1889 | c.141 others(1908): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | chr2 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(1882): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0246 | 1 | 68 | 0.0147 | 1889 | c.218 others(1906): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1882): Show |
frameshift_variant others(1): Show |
HIGH | NA18906.hp2 | a0003 | a0003c0025 | a0003c0025t0003 | a0003c0025t0003g0065 | 1 | 363 | 0.0028 | 1889 | c.435 others(1896): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TAACCACT others(1883): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 241 | 0.0041 | 1890 | c.127 others(1907): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111744 | A | ACCAGACA others(1883): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 284 | 0.0070 | 1890 | c.401 others(1907): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112017 | A | AGGCACCT others(1883): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 142 | 0.0070 | 1890 | c.401 others(1907): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7835508 | A | ACAGTTAC others(1883): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0010 | a0001c0010t0012a0001c0010t0039 | a0001c0010t0012g0002 a0001c0010t0039g0225 |
2 | 316 | 0.0063 | 1890 | c.726 others(1907): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp1 HG06807.hp2 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0001c0003t0004a0003c0006t0004 | a0001c0003t0001g0034 a0001c0003t0004g0036 a0003c0006t0004g0035 |
3 | 91 | 0.0330 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0012 | a0012c0026 | a0012c0026t0004 | a0012c0026t0004g0117 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0207 others(10): Show |
13 | 101 | 0.1287 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0141 others(9): Show |
12 | 100 | 0.1200 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01515.hp1 HG03688.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0003a0002c0012t0001 | a0001c0001t0001g0243 a0002c0002t0003g0056 a0002c0012t0001g0310 |
3 | 91 | 0.0330 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0014 | a0014c0017 | a0014c0017t0003 | a0014c0017t0003g0288 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0003t0001g0102 |
3 | 91 | 0.0330 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0143 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02074.hp1 others(5): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0018 | a0001c0001t0001a0002c0002t0001a0010c0018t0004 | a0001c0001t0001g0162 a0001c0001t0001g0205 a0001c0001t0001g0250 others(5): Show |
8 | 96 | 0.0833 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0092 | 1 | 89 | 0.0112 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1883): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18943.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0307 a0001c0005t0001g0119 |
2 | 90 | 0.0222 | 1890 | c.128 others(1905): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469994 | G | GGGAGGAT others(1883): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 101 | 0.0099 | 1890 | c.354 others(1909): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647607 | G | GACCCAGT others(1883): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 386 | 0.0026 | 1890 | c.253 others(1905): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1883): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 73 | 0.0137 | 1890 | c.-56 others(1909): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1206322 | T | TGGGGTAG others(1883): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0017 | a0001c0002t0001g0015 a0001c0003t0017g0004 |
2 | 20 | 0.1000 | 1890 | c.74- others(1907): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1883): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00735.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0002g0002 others(29): Show |
34 | 318 | 0.1069 | 1890 | c.635 others(1909): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1883): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0031 | 1 | 285 | 0.0035 | 1890 | c.635 others(1909): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(1883): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 64 | 0.0156 | 1890 | c.107 others(1909): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1883): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0148 | 1 | 95 | 0.0105 | 1890 | c.*11 others(1911): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876847 | G | GGGAGGTT others(1883): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0130 a0002c0005t0005g0131 |
2 | 237 | 0.0084 | 1890 | c.224 others(1909): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876935 | T | TAGGGAGG others(1883): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 225 | 0.0044 | 1890 | c.224 others(1909): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1883): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 48 | 0.0208 | 1890 | c.107 others(1909): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1883): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0043others(1): Show | a0001c0001t0004g0146 a0001c0002t0001g0050 a0001c0002t0043g0145 others(1): Show |
4 | 51 | 0.0784 | 1890 | c.107 others(1909): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393250 | T | TCTCTCTC others(1883): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01943.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0048 | a0001c0002t0001g0014 a0001c0002t0001g0141 a0001c0002t0005g0029 others(1): Show |
4 | 145 | 0.0276 | 1890 | c.107 others(1909): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393252 | T | TCTCTCTC others(1883): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 151 | 0.0066 | 1890 | c.107 others(1909): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1883): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 175 | 0.0057 | 1890 | c.*49 others(1901): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398178 | G | GGGCATCT others(1883): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0026 |
4 | 337 | 0.0119 | 1890 | c.*47 others(1901): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4753 | chr4 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1883): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0018 | 1 | 5 | 0.2000 | 1890 | c.189 others(1909): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162723 | T | TCCCCACA others(1883): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 234 | 0.0043 | 1890 | c.260 others(1905): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1883): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 others(1): Show |
4 | 329 | 0.0122 | 1890 | c.119 others(1907): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(1883): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0194 | 1 | 337 | 0.0030 | 1890 | c.101 others(1909): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |