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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5103): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 44 | 0.0227 | 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 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0014 | 1 | 50 | 0.0200 | 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 | a0002c0013t0002g0131 | 1 | 330 | 0.0030 | 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 | 133 | 0.0075 | 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 | a0001c0001t0006g0340 | 1 | 376 | 0.0027 | 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 | 276 | 0.0036 | 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 | a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0314 |
3 | 337 | 0.0089 | 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 | a0002c0003t0002g0119 | 1 | 289 | 0.0035 | 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 | 170 | 0.0059 | 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 | 410 | 0.0024 | 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 | 80 | 0.0125 | 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 | 223 | 0.0045 | 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 | a0002c0002t0003 | a0002c0002t0003g0042 | 1 | 50 | 0.0200 | 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 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 50 | 0.0200 | 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 | a0005c0007t0012g0003 a0005c0007t0028g0003 |
2 | 289 | 0.0069 | 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 | a0005c0007t0012g0002 | 2 | 289 | 0.0069 | 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 | a0002c0003t0002g0106 | 1 | 289 | 0.0035 | 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 | 116 | 0.0086 | 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 | a0001c0002t0038 | a0001c0002t0038g0069 | 1 | 218 | 0.0046 | 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 | 266 | 0.0075 | 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 | a0001c0001t0001g0040 a0001c0007t0008g0211 |
3 | 390 | 0.0077 | 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 | 266 | 0.0038 | 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 | a0001c0004t0014g0183 | 1 | 376 | 0.0027 | 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 | a0001c0001t0001g0112 | 1 | 268 | 0.0037 | 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 | 155 | 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 | 218 | 0.0138 | 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 | 218 | 0.0092 | 5131 | c.580 others(5148): 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(5125): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 266 | 0.0038 | 5132 | c.-34 others(5147): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5126): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 268 | 0.0037 | 5133 | c.136 others(5150): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IGSF23_chr19_44608563_44641781 | 44615644 | T | TCAGTTCC others(5128): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 422 | 0.0024 | 5135 | c.125 others(5152): Show |
IGSF23 | ENSG00000216588.9 | transcript | ENST00000402988.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364497 | C | CCTTACAT others(5129): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 290 | 0.0035 | 5136 | c.129 others(5153): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693645 | T | TCCACCTC others(5129): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0002 | 1 | 60 | 0.0167 | 5136 | c.299 others(5153): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5130): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 1 | 50 | 0.0200 | 5137 | c.287 others(5156): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5130): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0075 | 1 | 218 | 0.0046 | 5137 | c.580 others(5154): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5131): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 370 | 0.0027 | 5138 | c.891 others(5153): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(5132): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0270 | 1 | 298 | 0.0034 | 5139 | c.955 others(5156): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5132): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 50 | 0.0200 | 5139 | c.287 others(5158): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(5132): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0013 | a0013c0050 | a0013c0050t0013 | a0013c0050t0013g0078 | 1 | 292 | 0.0034 | 5139 | c.218 others(5154): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168592907 | C | CGAGCTCC others(5132): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 180 | 0.0056 | 5139 | c.638 others(5156): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5133): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0004 | 1 | 218 | 0.0046 | 5140 | c.580 others(5157): 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(5133): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0003 a0001c0002t0009g0006 a0001c0002t0009g0007 others(2): Show |
5 | 218 | 0.0229 | 5140 | c.580 others(5157): 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(5133): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 218 | 0.0046 | 5140 | c.580 others(5157): 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(5133): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 218 | 0.0046 | 5140 | c.580 others(5157): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5134): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0207 | 1 | 318 | 0.0031 | 5141 | c.225 others(5158): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5134): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0005 | 1 | 218 | 0.0046 | 5141 | c.580 others(5158): 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(5134): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0016 | a0001c0001t0006g0049 a0001c0001t0006g0054 a0001c0001t0006g0057 others(7): Show |
10 | 218 | 0.0459 | 5141 | c.580 others(5158): 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(5134): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0062 | 1 | 218 | 0.0046 | 5141 | c.580 others(5158): 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(5134): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01496.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0030 | a0001c0002t0018g0034 a0001c0002t0018g0036 a0001c0002t0030g0035 |
3 | 218 | 0.0138 | 5141 | c.580 others(5158): 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(5134): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG02004.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0017a0001c0002t0019 | a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 others(8): Show |
11 | 218 | 0.0505 | 5141 | c.580 others(5158): 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(5134): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0033 | 1 | 218 | 0.0046 | 5141 | c.580 others(5158): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |