| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
| WDR49_chr3_167473684_167658942 | 167547408 | T | TAGAAAAA others(2116): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 207 | 0.0048 | 2123 | c.182 others(2142): Show |
WDR49 | ENSG00000174776.12 | transcript | ENST00000682715.1 | protein_coding | 10/18 | chr3 | TogoVar | |||||||
| CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2117): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 39 | 0.0256 | 2124 | c.177 others(2143): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2117): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 2 | 0.5000 | 2124 | c.44- others(2137): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2117): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 4 | 0.2500 | 2124 | c.972 others(2137): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2117): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 95 | 0.0105 | 2124 | c.*11 others(2145): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
| MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(2117): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0098 | 1 | 247 | 0.0040 | 2124 | c.377 others(2141): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(2117): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 181 | 0.0055 | 2124 | c.224 others(2143): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877493 | T | TAGGGAGG others(2117): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0141 | 1 | 226 | 0.0044 | 2124 | c.224 others(2143): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA18986.hp2 | a0016 | a0016c0014 | a0016c0014t0003 | a0016c0014t0003g0118 | 1 | 309 | 0.0032 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA19010.hp1 NA19088.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0028 a0003c0003t0003g0138 |
2 | 310 | 0.0065 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02165.hp1 NA18941.hp1 NA18984.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0114 a0003c0003t0003g0116 a0003c0003t0003g0126 others(1): Show |
4 | 312 | 0.0128 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG01928.hp1 HG02074.hp2 HG02132.hp1 others(20): Show |
a0003a0024a0029others(1): Show | a0003c0003a0003c0021a0024c0022others(2): Show | a0003c0003t0001a0003c0003t0003a0003c0021t0003others(3): Show | a0003c0003t0001g0115 a0003c0003t0001g0122 a0003c0003t0003g0005 others(17): Show |
23 | 331 | 0.0695 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA18959.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0117 | 1 | 309 | 0.0032 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp2 HG00621.hp2 NA18940.hp2 others(15): Show |
a0003a0016a0056others(1): Show | a0003c0003a0003c0037a0016c0014others(2): Show | a0003c0003t0001a0003c0003t0003a0003c0037t0003others(3): Show | a0003c0003t0001g0160 a0003c0003t0003g0005 a0003c0003t0003g0028 others(14): Show |
18 | 326 | 0.0552 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0043 | a0043c0031 | a0043c0031t0002 | a0043c0031t0002g0281 | 1 | 309 | 0.0032 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp2 HG03195.hp1 |
a0021 | a0021c0020 | a0021c0020t0002 | a0021c0020t0002g0101 a0021c0020t0002g0102 |
2 | 310 | 0.0065 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0037 | a0037c0030 | a0037c0030t0001 | a0037c0030t0001g0043 | 1 | 309 | 0.0032 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp1 HG03098.hp1 NA20129.hp1 |
a0015 | a0015c0013 | a0015c0013t0001a0015c0013t0002 | a0015c0013t0001g0046 a0015c0013t0002g0044 a0015c0013t0002g0045 |
3 | 311 | 0.0096 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2117): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2124 | c.*44 others(2135): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
| RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACTG others(2117): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0049 | 1 | 137 | 0.0073 | 2124 | c.655 others(2141): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2117): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0034 | a0004c0004t0034g0149 | 1 | 356 | 0.0028 | 2124 | c.341 others(2141): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
| CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2118): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0021 | 1 | 2 | 0.5000 | 2125 | c.-52 others(2146): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2118): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 88 | 0.0114 | 2125 | c.*92 others(2136): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
| DOCK1_chr10_126900428_127457516 | 126947850 | G | GTGGTGGT others(2118): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0030 | 1 | 133 | 0.0075 | 2125 | c.47- others(2142): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2118): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03834.hp1 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0041 | 2 | 271 | 0.0074 | 2125 | c.-5+ others(2138): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2118): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 |
a0003 | a0003c0006 | a0003c0006t0022a0003c0006t0046 | a0003c0006t0022g0208 a0003c0006t0046g0143 |
2 | 414 | 0.0048 | 2125 | c.214 others(2140): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2118): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 33 | 0.0303 | 2125 | c.212 others(2144): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 5 | 0.2000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02293.hp2 HG02809.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0024a0001c0051others(5): Show | a0001c0004t0002a0001c0004t0003a0001c0024t0009others(7): Show | a0001c0004t0002g0098 a0001c0004t0003g0092 a0001c0024t0009g0045 others(15): Show |
18 | 22 | 0.8182 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0134 | 1 | 5 | 0.2000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 |
a0001 | a0001c0016 | a0001c0016t0006a0001c0016t0023 | a0001c0016t0006g0052 a0001c0016t0023g0047 |
2 | 6 | 0.3333 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18972.hp2 NA19065.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0012a0002c0001 | a0001c0004t0002a0001c0012t0005a0002c0001t0002 | a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0012t0005g0081 others(1): Show |
4 | 8 | 0.5000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0008a0001c0009a0001c0010others(7): Show | a0001c0008t0031a0001c0009t0025a0001c0010t0005others(9): Show | a0001c0008t0031g0034 a0001c0009t0025g0096 a0001c0010t0005g0033 others(13): Show |
16 | 20 | 0.8000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0041 | 1 | 5 | 0.2000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2118): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0011 | 1 | 8 | 0.1250 | 2125 | c.-20 others(2136): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
| SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2118): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 28 | 0.0357 | 2125 | c.-50 others(2136): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
| TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2118): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0102 |
2 | 90 | 0.0222 | 2125 | c.-48 others(2136): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
| VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2118): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0161 | 1 | 356 | 0.0028 | 2125 | c.341 others(2142): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
| VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2118): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0150 | 1 | 356 | 0.0028 | 2125 | c.341 others(2142): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
| CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2119): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20752.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0016a0003c0003t0015 | a0001c0001t0016g0069 a0003c0003t0015g0010 |
2 | 14 | 0.1429 | 2126 | c.354 others(2145): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(2119): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0053 | a0053c0063 | a0053c0063t0001 | a0053c0063t0001g0217 | 1 | 127 | 0.0079 | 2126 | c.321 others(2145): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(2119): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0016 | a0016c0069 | a0016c0069t0001 | a0016c0069t0001g0209 | 1 | 68 | 0.0147 | 2126 | c.323 others(2145): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2119): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0006 | a0003c0006t0022 | a0003c0006t0022g0207 | 1 | 413 | 0.0024 | 2126 | c.214 others(2141): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859493 | C | CGGGACGG others(2119): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0092 | 1 | 189 | 0.0053 | 2126 | c.153 others(2145): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(2119): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 133 | 0.0075 | 2126 | c.147 others(2145): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
| PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2119): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0001a0001c0004t0001a0001c0014t0001 | a0001c0001t0001g0163 a0001c0004t0001g0162 a0001c0014t0001g0261 |
3 | 45 | 0.0667 | 2126 | c.-12 others(2147): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2119): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 218 | 0.0046 | 2126 | c.*44 others(2137): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
| SPAAR_chr9_35904490_35916686 | 35914203 | G | GGTGTGTG others(2119): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 403 | 0.0025 | 2126 | c.*35 others(2137): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2518 | chr9 | TogoVar | |||||||
| VCX2_chrX_8164944_8176267 | 8169829 | T | TCCCTCCC others(2119): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 96 | 0.0104 | 2126 | c.*20 others(2135): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 114 | chrX | TogoVar |