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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf50_chr7_992006_1143247 | 1070458 | A | AGCCACCC others(1613): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03710.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0026 | a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0026g0175 |
3 | 326 | 0.0092 | 1620 | c.129 others(1639): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1613): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 58 | 0.0172 | 1620 | c.510 others(1639): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262037 | A | ACAGGGCA others(1613): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 290 | 0.0035 | 1620 | c.-95 others(1639): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262037 | A | ACAGGGCA others(1613): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0280 | 1 | 290 | 0.0035 | 1620 | c.-95 others(1639): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262154 | T | TAGATCTA others(1613): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0012 | a0012c0011 | a0012c0011t0050 | a0012c0011t0050g0089 | 1 | 290 | 0.0035 | 1620 | c.-95 others(1639): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(1613): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0022 | a0022c0022 | a0022c0022t0032 | a0022c0022t0032g0240 | 1 | 290 | 0.0035 | 1620 | c.-95 others(1639): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525130 | A | AGGACCCG others(1613): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 236 | 0.0042 | 1620 | c.361 others(1639): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 759057 | A | ACCTTCCC others(1613): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 1620 | c.18+ others(1637): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(1613): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | 1620 | c.18+ others(1637): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927973 | T | TGGTGGTG others(1613): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0014 | a0003c0014t0004 | a0003c0014t0004g0254 | 1 | 288 | 0.0035 | 1620 | c.190 others(1639): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(1613): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0282 | 1 | 366 | 0.0027 | 1620 | c.666 others(1637): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34071577 | C | CACACACA others(1613): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 HG02071.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0003t0004 | a0001c0002t0001g0014 a0001c0002t0001g0098 a0001c0002t0006g0120 others(6): Show |
9 | 282 | 0.0319 | 1620 | c.737 others(1637): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
GRM4_chr6_34013643_34151087 | 34071577 | C | CACACACA others(1613): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02129.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0119 a0001c0002t0002g0167 a0001c0002t0004g0185 others(4): Show |
7 | 282 | 0.0248 | 1620 | c.737 others(1637): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
GRM4_chr6_34013643_34151087 | 34071577 | C | CACACACA others(1613): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0130 | 1 | 282 | 0.0036 | 1620 | c.737 others(1637): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(1613): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 323 | 0.0031 | 1620 | c.-23 others(1631): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132772518 | A | ATGAAGAG others(1613): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 204 | 0.0049 | 1620 | c.978 others(1637): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189641 | A | AAGGAAGG others(1613): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0056 | 1 | 62 | 0.0161 | 1620 | c.-36 others(1641): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877274 | G | GCAGTGAT others(1613): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070 | 1 | 292 | 0.0034 | 1620 | c.220 others(1639): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(1613): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 | 1 | 292 | 0.0034 | 1620 | c.220 others(1639): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACACTT others(1613): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0235 | 1 | 290 | 0.0035 | 1620 | c.129 others(1637): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(1613): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0102 | 1 | 292 | 0.0034 | 1620 | c.377 others(1637): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877266 | G | GTTAGGGA others(1613): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0062 | 1 | 274 | 0.0037 | 1620 | c.224 others(1639): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543692 | G | GGTGAGTG others(1613): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0017 | a0017c0021 | a0017c0021t0002 | a0017c0021t0002g0050 | 1 | 286 | 0.0035 | 1620 | c.153 others(1639): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1613): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 256 | 0.0039 | 1620 | c.241 others(1639): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1613): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 256 | 0.0039 | 1620 | c.241 others(1639): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1613): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01928.hp2 others(15): Show |
a0001 | a0001c0001a0001c0005a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 others(15): Show |
18 | 256 | 0.0703 | 1620 | c.241 others(1639): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1613): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03491.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0011t0005 | a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0011t0005g0045 |
3 | 256 | 0.0117 | 1620 | c.241 others(1639): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCTGCCC others(1613): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18939.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0036 others(1): Show |
4 | 256 | 0.0156 | 1620 | c.241 others(1639): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646058 | A | ACCACTTC others(1613): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 180 | 0.0056 | 1620 | c.-35 others(1641): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1613): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 133 | 0.0075 | 1620 | c.614 others(1637): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1613): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 | 1 | 376 | 0.0027 | 1620 | c.141 others(1637): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1613): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0140 |
3 | 376 | 0.0080 | 1620 | c.141 others(1637): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1613): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 376 | 0.0027 | 1620 | c.141 others(1637): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1613): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 376 | 0.0027 | 1620 | c.141 others(1637): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432138 | C | CAGGGTGG others(1613): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 2 | 376 | 0.0053 | 1620 | c.101 others(1637): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098676 | G | GCCCCCCT others(1613): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0001 | 1 | 118 | 0.0085 | 1620 | c.125 others(1637): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098676 | G | GCCCCCCT others(1613): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18906.hp2 |
a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0058 a0001c0014t0003g0059 |
2 | 118 | 0.0170 | 1620 | c.125 others(1637): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1613): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 354 | 0.0028 | 1620 | c.*45 others(1631): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 360 | 0.0028 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03195.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0002t0001g0329 |
3 | 360 | 0.0083 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 360 | 0.0028 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0318 a0001c0002t0002g0090 a0002c0003t0001g0130 others(11): Show |
14 | 360 | 0.0389 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG02818.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0218 a0001c0001t0001g0238 others(7): Show |
10 | 360 | 0.0278 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 360 | 0.0028 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1613): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0077 | 1 | 360 | 0.0028 | 1620 | c.135 others(1639): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1613): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 94 | 0.0106 | 1620 | c.79+ others(1637): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311180 | G | GCACTCAC others(1613): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 344 | 0.0029 | 1620 | c.327 others(1637): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870227 | A | ACCCCACA others(1613): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 338 | 0.0030 | 1620 | c.*35 others(1639): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1614): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 334 | 0.0030 | 1621 | c.147 others(1638): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1614): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0244 | 1 | 334 | 0.0030 | 1621 | c.147 others(1638): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |