regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1031): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 186 | 0.0108 | 1038 | c.-50 others(1049): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2546636 | T | TGATCAAC others(1031): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0021 | a0021c0039 | a0021c0039t0001 | a0021c0039t0001g0253 | 1 | 344 | 0.0029 | 1038 | c.82+ others(1053): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(1031): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0075 | a0001c0001t0011g0002a0001c0001t0075g0181 | 2 | 314 | 0.0064 | 1038 | c.189 others(1053): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1031): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 360 | 0.0028 | 1038 | c.*24 others(1049): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1031): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 167 | 0.0060 | 1038 | c.*53 others(1049): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CTCCTCTC others(1031): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 202 | 0.0050 | 1038 | c.*53 others(1049): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1031): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0023 | 1 | 274 | 0.0037 | 1038 | c.*51 others(1049): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1031): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 246 | 0.0041 | 1038 | c.-10 others(1055): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1032): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 NA19067.hp1 |
a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0016a0001c0002t0034g0074 | 2 | 350 | 0.0057 | 1039 | c.*23 others(1050): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1032): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0088 | a0001c0002t0088g0303 | 1 | 350 | 0.0029 | 1039 | c.*23 others(1050): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1032): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0062 | 1 | 342 | 0.0029 | 1039 | c.578 others(1052): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 238 | 0.0042 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 238 | 0.0042 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01358.hp2 HG02132.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0012 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0201a0001c0001t0001g0206a0001c0001t0001g0213others(9): Show | 12 | 238 | 0.0504 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0233 | 1 | 238 | 0.0042 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1032): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 318 | 0.0031 | 1039 | c.285 others(1058): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1032): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 318 | 0.0031 | 1039 | c.285 others(1058): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1032): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 318 | 0.0031 | 1039 | c.285 others(1058): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1032): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0206 | 1 | 318 | 0.0031 | 1039 | c.285 others(1058): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1032): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 318 | 0.0031 | 1039 | c.285 others(1058): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1032): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01975.hp1 HG01981.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0184a0002c0004t0002g0191a0002c0004t0002g0192others(2): Show | 5 | 326 | 0.0153 | 1039 | c.327 others(1056): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1032): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0062 | a0062c0094 | a0062c0094t0001 | a0062c0094t0001g0018 | 1 | 278 | 0.0036 | 1039 | c.328 others(1056): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1032): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0043 | a0043c0088 | a0043c0088t0001 | a0043c0088t0001g0137 | 1 | 278 | 0.0036 | 1039 | c.328 others(1056): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1032): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0220 | 1 | 292 | 0.0034 | 1039 | c.268 others(1058): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1032): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 276 | 0.0036 | 1039 | c.*51 others(1050): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1032): Show |
intron_variant | MODIFIER | HG03540.hp2 NA20129.hp2 |
a0024a0073 | a0024c0018a0073c0107 | a0024c0018t0001a0073c0107t0001 | a0024c0018t0001g0012a0073c0107t0001g0143 | 2 | 252 | 0.0079 | 1039 | c.118 others(1058): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1032): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 290 | 0.0035 | 1039 | c.162 others(1058): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1032): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 290 | 0.0035 | 1039 | c.162 others(1058): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1032): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 290 | 0.0035 | 1039 | c.162 others(1058): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1032): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 290 | 0.0035 | 1039 | c.162 others(1058): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1032): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02280.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0142a0001c0001t0002g0279a0001c0001t0004g0124others(1): Show | 4 | 290 | 0.0138 | 1039 | c.162 others(1058): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(1032): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 374 | 0.0027 | 1039 | c.*14 others(1050): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1032): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0052 | 1 | 125 | 0.0080 | 1039 | c.928 others(1056): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
GAK_chr4_844277_937316 | 926916 | A | ACCCCTCC others(1032): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 390 | 0.0026 | 1039 | c.145 others(1056): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(1032): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 376 | 0.0027 | 1039 | c.666 others(1056): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997309 | T | TGGGGCGA others(1032): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0237 | 1 | 375 | 0.0027 | 1039 | c.-21 others(1050): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 361 | chr6 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1032): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 108 | 0.0093 | 1039 | c.648 others(1058): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1032): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0070 | 1 | 108 | 0.0093 | 1039 | c.648 others(1058): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1032): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG01934.hp1 HG01943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0011a0001c0001t0002g0013others(5): Show | 10 | 318 | 0.0315 | 1039 | c.-49 others(1050): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CTCCTCTC others(1032): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0105 | 1 | 318 | 0.0031 | 1039 | c.-49 others(1050): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876829 | T | TGGAGGTT others(1032): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0071 | 1 | 274 | 0.0037 | 1039 | c.224 others(1058): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1032): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0066 | 1 | 394 | 0.0025 | 1039 | c.-8+ others(1052): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(1032): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 242 | 0.0041 | 1039 | c.361 others(1058): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841642 | T | TGACCACG others(1032): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | 242 | 0.0083 | 1039 | c.361 others(1058): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(1032): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 360 | 0.0028 | 1039 | c.*35 others(1050): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1032): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0020 | a0008c0020t0007 | a0008c0020t0007g0154 | 1 | 376 | 0.0027 | 1039 | c.*15 others(1050): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398164 | T | TACCTGCG others(1032): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 216 | 0.0046 | 1039 | c.106 others(1056): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1032): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0156 | 1 | 304 | 0.0033 | 1039 | c.66+ others(1054): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CCACCCCC others(1032): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 356 | 0.0028 | 1039 | c.646 others(1056): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCCACAC others(1032): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 224 | 0.0045 | 1039 | c.225 others(1058): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar |