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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOK_chr2_241553745_241579131 | 241570448 | G | GTCTGAGC others(832): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0025 | 1 | 399 | 0.0025 | 839 | c.513 others(854): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(832): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0043 | 1 | 5 | 0.2000 | 839 | c.234 others(860): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(832): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0002c0004t0001 | a0001c0003t0003g0163 a0002c0004t0001g0162 |
2 | 251 | 0.0080 | 839 | c.303 others(858): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882073 | G | GGAGAAGG others(832): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 173 | 0.0058 | 839 | c.303 others(858): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882473 | C | CGCGGGGA others(832): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0166 a0001c0003t0003g0167 |
2 | 235 | 0.0085 | 839 | c.303 others(858): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(832): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0039 | 1 | 38 | 0.0263 | 839 | c.248 others(856): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(832): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0068 | 1 | 59 | 0.0169 | 839 | c.-2+ others(856): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588000 | C | CCCCCCGT others(832): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0267 | 1 | 334 | 0.0030 | 839 | c.928 others(854): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713164 | A | ACCCGAGA others(832): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01168.hp1 others(6): Show |
a0003 | a0003c0004a0003c0038 | a0003c0004t0001a0003c0004t0004a0003c0038t0004 | a0003c0004t0001g0010 a0003c0004t0001g0015 a0003c0004t0001g0025 others(4): Show |
9 | 233 | 0.0386 | 839 | c.738 others(854): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325995 | T | TTGTGTTG others(832): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 93 | 0.0108 | 839 | c.292 others(858): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251147 | C | CCCACACC others(832): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0073 | 1 | 81 | 0.0123 | 839 | c.207 others(858): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(832): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 145 | 0.0069 | 839 | c.86- others(852): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(832): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 12 | 0.0833 | 839 | c.617 others(856): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(832): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 12 | 0.0833 | 839 | c.617 others(856): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(832): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18952.hp1 NA18953.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0042a0002c0003t0045 | a0002c0003t0003g0015 a0002c0003t0003g0062 a0002c0003t0003g0064 others(7): Show |
10 | 11 | 0.9091 | 839 | c.123 others(860): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(832): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0036 | 1 | 2 | 0.5000 | 839 | c.123 others(860): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(832): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 160 | 0.0063 | 839 | c.-19 others(858): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(832): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 160 | 0.0063 | 839 | c.-19 others(858): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(832): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 160 | 0.0063 | 839 | c.-19 others(858): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GET4_chr7_871554_901436 | 889922 | A | AGAGCGGG others(832): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0236 | 1 | 195 | 0.0051 | 839 | c.467 others(854): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0202 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 a0002c0002t0002g0239 |
2 | 205 | 0.0098 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0033 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01928.hp2 HG02027.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0033 | a0001c0001t0001g0236 a0002c0002t0002g0029 a0002c0002t0002g0199 others(1): Show |
4 | 207 | 0.0193 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(832): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0194 | 1 | 204 | 0.0049 | 839 | c.-36 others(850): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(832): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 11 | 0.0909 | 839 | c.10- others(856): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(832): Show |
intron_variant | MODIFIER | HG02148.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0290 |
2 | 6 | 0.3333 | 839 | c.-41 others(854): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(832): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 5 | 0.2000 | 839 | c.-41 others(854): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997395 | A | ATCTGCAG others(832): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0242 |
2 | 314 | 0.0064 | 839 | c.-20 others(850): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 275 | chr6 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(832): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03139.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show |
4 | 112 | 0.0357 | 839 | c.480 others(858): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(832): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 109 | 0.0092 | 839 | c.480 others(858): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(832): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0222 a0001c0001t0002g0220 a0001c0001t0002g0221 |
3 | 111 | 0.0270 | 839 | c.480 others(858): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(832): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 8 | 0.1250 | 839 | c.641 others(854): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(832): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(2): Show |
5 | 12 | 0.4167 | 839 | c.641 others(854): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(832): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0028 | 1 | 8 | 0.1250 | 839 | c.250 others(854): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(832): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02300.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0085 a0001c0002t0001g0046 a0001c0002t0001g0048 |
3 | 46 | 0.0652 | 839 | c.133 others(858): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(832): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 44 | 0.0227 | 839 | c.133 others(858): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667810 | T | TCCTTACC others(832): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0014 | a0014c0021 | a0014c0021t0001 | a0014c0021t0001g0211 | 1 | 191 | 0.0052 | 839 | c.148 others(858): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(832): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 154 | 0.0065 | 839 | c.360 others(858): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54332348 | A | AATATAAT others(832): Show |
intron_variant | MODIFIER | HG03942.hp2 NA20905.hp2 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0002a0006c0006t0005 | a0003c0003t0002g0020 a0006c0006t0005g0059 |
2 | 98 | 0.0204 | 839 | c.595 others(856): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54332348 | A | AATATAAT others(832): Show |
intron_variant | MODIFIER | HG03942.hp2 NA20905.hp1 |
a0003a0006 | a0003c0005a0006c0008 | a0003c0005t0001a0006c0008t0001 | a0003c0005t0001g0020 a0006c0008t0001g0055 |
2 | 90 | 0.0222 | 839 | c.595 others(856): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713164 | A | ACCCGAGA others(832): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG03130.hp2 HG03225.hp2 |
a0003a0021a0064 | a0003c0005a0021c0039a0064c0093 | a0003c0005t0001a0021c0039t0001a0064c0093t0008 | a0003c0005t0001g0194 a0021c0039t0001g0185 a0064c0093t0008g0279 |
3 | 160 | 0.0188 | 839 | c.*24 others(850): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2173 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398269 | A | ACCCGCAC others(832): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 199 | 0.0050 | 839 | c.106 others(856): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(832): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 196 | 0.0051 | 839 | c.106 others(856): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276362 | G | GCAGGGAG others(832): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0013 | a0013c0030 | a0013c0030t0001 | a0013c0030t0001g0220 | 1 | 282 | 0.0035 | 839 | c.533 others(856): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(832): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0067 a0001c0001t0008g0066 |
2 | 20 | 0.1000 | 839 | c.24+ others(856): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668573 | T | TCTCCCTC others(832): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0242 | 1 | 256 | 0.0039 | 839 | c.249 others(858): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar |