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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5135): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01192.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0103 others(19): Show |
22 | 54 | 0.4074 | 5142 | c.580 others(5159): 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(5135): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 |
2 | 34 | 0.0588 | 5142 | c.580 others(5159): 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(5135): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01433.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0109 a0001c0001t0010g0110 a0001c0001t0010g0111 others(1): Show |
4 | 36 | 0.1111 | 5142 | c.580 others(5159): 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(5136): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0150 | 1 | 33 | 0.0303 | 5143 | c.580 others(5160): 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(5136): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 | 1 | 33 | 0.0303 | 5143 | c.580 others(5160): 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(5136): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0040 | a0001c0001t0003g0079 a0001c0001t0040g0080 |
2 | 34 | 0.0588 | 5143 | c.580 others(5160): 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(5136): Show |
intron_variant | MODIFIER | HG00735.hp2 NA18747.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 |
3 | 35 | 0.0857 | 5143 | c.580 others(5160): 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(5136): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0105 | 1 | 33 | 0.0303 | 5143 | c.580 others(5160): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5931519 | C | CAGACTAG others(5137): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 88 | 0.0114 | 5144 | c.23- others(5159): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5137): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 33 | 0.0303 | 5144 | c.580 others(5161): 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(5137): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0014a0002c0005t0033 | a0001c0002t0014g0071 a0002c0005t0033g0073 |
2 | 34 | 0.0588 | 5144 | c.580 others(5161): 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(5137): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0074 | 1 | 33 | 0.0303 | 5144 | c.580 others(5161): 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(5138): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 55 | 0.0182 | 5145 | c.891 others(5160): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5138): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0070 | 1 | 33 | 0.0303 | 5145 | c.580 others(5162): 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(5138): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0072 | 1 | 33 | 0.0303 | 5145 | c.580 others(5162): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(5143): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 205 | 0.0049 | 5150 | c.129 others(5167): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(5143): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 20 | 0.0500 | 5150 | c.351 others(5169): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(5145): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0016 | 1 | 3 | 0.3333 | 5152 | c.*14 others(5163): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5145): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0028a0001c0002t0029 | a0001c0002t0020g0011 a0001c0002t0020g0013 a0001c0002t0028g0010 others(1): Show |
4 | 36 | 0.1111 | 5152 | c.580 others(5169): 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(5145): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0014 | 1 | 33 | 0.0303 | 5152 | c.580 others(5169): 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(5145): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0015 | 1 | 33 | 0.0303 | 5152 | c.580 others(5169): 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(5145): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0035 | a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0008g0018 others(1): Show |
4 | 36 | 0.1111 | 5152 | c.580 others(5169): 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(5146): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0020 a0001c0002t0008g0021 |
2 | 34 | 0.0588 | 5153 | c.580 others(5170): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(5147): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0289 | 1 | 211 | 0.0047 | 5154 | c.118 others(5173): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(5147): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 9 | 0.1111 | 5154 | c.299 others(5171): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(5148): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 99 | 0.0101 | 5155 | c.*67 others(5166): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249455 | A | AGAGGAGG others(5148): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0019 | a0001c0019t0012 | a0001c0019t0012g0181 | 1 | 202 | 0.0050 | 5155 | c.206 others(5174): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693732 | T | TCCACCTC others(5148): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 3 | 0.3333 | 5155 | c.-30 others(5166): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2919 | chr20 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5148): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 4 | 0.2500 | 5155 | c.296 others(5172): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACCC others(5149): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 71 | 0.0141 | 5156 | c.107 others(5175): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5150): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 8 | 0.1250 | 5157 | c.-45 others(5166): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | CAGGGTGG others(5150): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0012 | 1 | 228 | 0.0044 | 5157 | c.101 others(5174): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(5151): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 29 | 0.0345 | 5158 | c.109 others(5173): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586564 | A | AGAGGGGA others(5151): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0019 | a0009c0019t0023 | a0009c0019t0023g0019 | 1 | 304 | 0.0033 | 5158 | c.157 others(5175): 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(5153): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 8 | 0.1250 | 5160 | c.-45 others(5169): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(5154): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 194 | 0.0052 | 5161 | c.*23 others(5172): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(5155): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0139 | 1 | 20 | 0.0500 | 5162 | c.206 others(5181): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5156): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0165 | 1 | 8 | 0.1250 | 5163 | c.-45 others(5172): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TAATCATA others(5157): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0159 |
3 | 309 | 0.0097 | 5164 | c.327 others(5181): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5157): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | 308 | 0.0065 | 5164 | c.327 others(5181): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5158): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 129 | 0.0078 | 5165 | c.86- others(5176): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TTCACAAC others(5160): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0165 | 1 | 304 | 0.0033 | 5167 | c.225 others(5184): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6493677 | T | TATTATTT others(5160): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0057 | 1 | 426 | 0.0023 | 5167 | c.*14 others(5178): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 641 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5163): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 212 | 0.0047 | 5170 | c.225 others(5187): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5164): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 55 | 0.0182 | 5171 | c.891 others(5186): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5165): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0212 | 1 | 173 | 0.0058 | 5172 | c.127 others(5189): 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(5165): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 173 | 0.0058 | 5172 | c.127 others(5189): 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(5165): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231 | 1 | 173 | 0.0058 | 5172 | c.127 others(5189): 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(5165): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 173 | 0.0058 | 5172 | c.127 others(5189): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5165): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 8 | 0.1250 | 5172 | c.-45 others(5181): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar |