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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5098): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0175 | 1 | 173 | 0.0058 | 5105 | c.127 others(5122): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5098): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 173 | 0.0058 | 5105 | c.127 others(5122): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5100): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 55 | 0.0182 | 5107 | c.891 others(5122): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5100): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 55 | 0.0182 | 5107 | c.891 others(5122): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5100): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0027 | 1 | 2 | 0.5000 | 5107 | c.287 others(5126): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5100): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0245 | 1 | 6 | 0.1667 | 5107 | c.179 others(5126): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586497 | G | GGTGGAGG others(5101): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 305 | 0.0033 | 5108 | c.157 others(5125): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5102): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 8 | 0.1250 | 5109 | c.-45 others(5118): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(5103): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 233 | 0.0043 | 5110 | c.366 others(5127): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5103): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 2 | 0.5000 | 5110 | c.287 others(5129): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 a0001c0001t0002g0189 |
2 | 65 | 0.0308 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 64 | 0.0156 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5103): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 |
3 | 66 | 0.0455 | 5110 | c.179 others(5129): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243241 | C | CCTTCCCG others(5103): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 160 | 0.0063 | 5110 | c.107 others(5129): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5103): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 4 | 0.2500 | 5110 | c.296 others(5127): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5104): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0010 | 1 | 2 | 0.5000 | 5111 | c.287 others(5130): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609651 | A | ACCCACAC others(5104): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0124 | 1 | 214 | 0.0047 | 5111 | c.132 others(5128): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(5104): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 20 | 0.0500 | 5111 | c.351 others(5130): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(5105): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0315 | 1 | 325 | 0.0031 | 5112 | c.101 others(5129): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(5108): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 69 | 0.0145 | 5115 | c.*52 others(5126): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065524 | G | GCTGCTGT others(5109): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18962.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0205 a0001c0001t0006g0234 a0001c0001t0010g0315 |
3 | 38 | 0.0789 | 5116 | c.118 others(5135): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(5112): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0117 | 1 | 152 | 0.0066 | 5119 | c.228 others(5140): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5113): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 129 | 0.0078 | 5120 | c.86- others(5133): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FRG2C_chr3_75659328_75672173 | 75662270 | A | AAGTGTTG others(5113): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0008 | a0009c0008t0016 | a0009c0008t0016g0017 | 1 | 408 | 0.0025 | 5120 | c.-21 others(5131): Show |
FRG2C | ENSG00000172969.8 | transcript | ENST00000308062.8 | protein_coding | 2057 | chr3 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(5113): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 2 | 0.5000 | 5120 | c.125 others(5137): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133878 | C | CCCCTCTC others(5116): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 210 | 0.0048 | 5123 | c.-41 others(5134): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3883 | chr19 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5116): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 2 | 0.5000 | 5123 | c.287 others(5142): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5117): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 1 | 2 | 0.5000 | 5124 | c.287 others(5143): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377419 | A | ACCCAGAC others(5117): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp2 |
a0005 | a0005c0007 | a0005c0007t0012a0005c0007t0028 | a0005c0007t0012g0006 a0005c0007t0028g0006 |
2 | 281 | 0.0071 | 5124 | c.228 others(5145): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377419 | A | ACCCAGAC others(5117): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03225.hp2 |
a0005 | a0005c0007 | a0005c0007t0012 | a0005c0007t0012g0005 | 2 | 281 | 0.0071 | 5124 | c.228 others(5145): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(5117): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0105 | 1 | 152 | 0.0066 | 5124 | c.228 others(5145): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251150 | A | ACATCTCC others(5118): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 87 | 0.0115 | 5125 | c.207 others(5144): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5118): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0069 | 1 | 33 | 0.0303 | 5125 | c.580 others(5142): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5119): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027 a0001c0001t0003g0027 |
2 | 4 | 0.5000 | 5126 | c.-34 others(5141): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(5121): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03704.hp2 HG03942.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0008 | a0001c0001t0001g0019 a0001c0007t0008g0019 |
3 | 31 | 0.0968 | 5128 | c.109 others(5143): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5123): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 3 | 0.3333 | 5130 | c.-34 others(5145): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431886 | C | CAGGGTGG others(5123): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0214 | 1 | 181 | 0.0055 | 5130 | c.101 others(5149): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5124): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 154 | 0.0065 | 5131 | c.136 others(5148): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323691 | T | TGTGTGTG others(5124): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 153 | 0.0065 | 5131 | c.-49 others(5142): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4896 | chrX | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5124): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03486.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0064 a0001c0002t0015g0065 a0001c0002t0015g0066 |
3 | 35 | 0.0857 | 5131 | c.580 others(5148): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5124): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0067 a0001c0002t0023g0068 |
2 | 34 | 0.0588 | 5131 | c.580 others(5148): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |