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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4278): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0019 | 1 | 31 | 0.0323 | 4285 | c.280 others(4302): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4279): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 31 | 0.0323 | 4286 | c.280 others(4303): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
MED15_chr22_20502610_20592619 | 20503709 | C | CAGAATTG others(4280): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03471.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0306 a0001c0001t0001g0311 a0002c0003t0001g0314 |
3 | 97 | 0.0309 | 4287 | c.-39 others(4298): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 3900 | chr22 | TogoVar | |||||||
MED15_chr22_20502610_20592619 | 20503709 | C | CAGAATTG others(4280): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 |
3 | 97 | 0.0309 | 4287 | c.-39 others(4298): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 3900 | chr22 | TogoVar | |||||||
MED15_chr22_20502610_20592619 | 20503709 | C | CAGAATTG others(4280): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0302 a0001c0001t0001g0304 others(1): Show |
5 | 99 | 0.0505 | 4287 | c.-39 others(4298): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 3900 | chr22 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19087.hp1 |
a0007a0011 | a0007c0007a0011c0009 | a0007c0007t0001a0011c0009t0001 | a0007c0007t0001g0083 a0011c0009t0001g0085 |
2 | 32 | 0.0625 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03239.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 33 | 0.0909 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0084 | 1 | 31 | 0.0323 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0086 | 1 | 31 | 0.0323 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02559.hp1 HG02717.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 others(9): Show |
12 | 42 | 0.2857 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 31 | 0.0323 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03579.hp2 others(1): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0003c0003t0001a0005c0005t0001 | a0002c0002t0002g0073 a0002c0002t0002g0074 a0003c0003t0001g0080 others(1): Show |
4 | 34 | 0.1176 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 NA19043.hp1 others(2): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0001 | a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 others(2): Show |
5 | 35 | 0.1429 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213306364 | T | TATATTTA others(4280): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0082 | 1 | 31 | 0.0323 | 4287 | c.280 others(4304): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 3/15 | chr2 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364372 | C | CCCACACT others(4281): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 | 1 | 283 | 0.0035 | 4288 | c.129 others(4307): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947685 | G | GGTGGTTG others(4282): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0014 | a0005c0014t0009 | a0005c0014t0009g0078 | 1 | 124 | 0.0081 | 4289 | c.47- others(4306): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(4282): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 198 | 0.0051 | 4289 | c.157 others(4306): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(4283): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0005 | 1 | 3 | 0.3333 | 4290 | c.169 others(4307): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947838 | T | TTGGTGGT others(4283): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0134 | 1 | 127 | 0.0079 | 4290 | c.47- others(4307): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289727 | C | CCGTGTCT others(4283): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0241 | 1 | 266 | 0.0038 | 4290 | c.166 others(4307): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4283): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0280 | 1 | 249 | 0.0040 | 4290 | c.161 others(4309): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4284): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0015 | 1 | 246 | 0.0041 | 4291 | c.127 others(4308): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544059 | G | GGGGGGAC others(4284): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 253 | 0.0040 | 4291 | c.153 others(4310): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432128 | A | ATAGGGTG others(4286): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0048 | 1 | 336 | 0.0030 | 4293 | c.101 others(4310): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(4287): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 329 | 0.0030 | 4294 | c.366 others(4311): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(4287): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 4294 | c.*32 others(4305): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4289): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 | 1 | 3 | 0.3333 | 4296 | c.-34 others(4311): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314887 | T | TCTGTGCC others(4290): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 126 | 0.0079 | 4297 | c.351 others(4314): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4291): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0013 | 1 | 296 | 0.0034 | 4298 | c.268 others(4317): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(4292): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 3 | 0.3333 | 4299 | c.169 others(4316): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4292): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0004 | a0004c0054 | a0004c0054t0006 | a0004c0054t0006g0020 | 1 | 296 | 0.0034 | 4299 | c.268 others(4318): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4292): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03492.hp1 HG03688.hp1 others(1): Show |
a0002a0007a0034 | a0002c0017a0002c0036a0007c0083others(1): Show | a0002c0017t0001a0002c0036t0041a0007c0083t0007others(1): Show | a0002c0017t0001g0111 a0002c0036t0041g0064 a0007c0083t0007g0056 others(1): Show |
4 | 299 | 0.0134 | 4299 | c.268 others(4318): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(4293): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 308 | 0.0032 | 4300 | c.112 others(4317): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79280762 | T | TTATTTTA others(4294): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 296 | 0.0034 | 4301 | c.141 others(4320): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948311 | G | GTGGTGGT others(4294): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 131 | 0.0076 | 4301 | c.47- others(4318): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4294): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 13 | 0.0769 | 4301 | c.215 others(4318): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTUD6B_chr8_91065344_91092093 | 91066603 | T | TGGGTATT others(4295): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 368 | 0.0027 | 4302 | c.-37 others(4313): Show |
OTUD6B | ENSG00000155100.11 | transcript | ENST00000404789.8 | protein_coding | 3740 | chr8 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(4296): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0186 | 1 | 233 | 0.0043 | 4303 | c.366 others(4320): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
OTUD6B_chr8_91065344_91092093 | 91066603 | T | TGGGTATT others(4296): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 368 | 0.0027 | 4303 | c.-37 others(4314): Show |
OTUD6B | ENSG00000155100.11 | transcript | ENST00000404789.8 | protein_coding | 3740 | chr8 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4297): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 8 | 0.1250 | 4304 | c.-45 others(4313): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586401 | C | CCGGGGGG others(4299): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 227 | 0.0044 | 4306 | c.157 others(4323): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315225 | C | CTCCACCT others(4299): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0014 | a0007c0014t0018 | a0007c0014t0018g0102 | 1 | 71 | 0.0141 | 4306 | c.351 others(4323): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(4299): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0017 | 1 | 23 | 0.0435 | 4306 | c.284 others(4325): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4300): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0148 | 1 | 23 | 0.0435 | 4307 | c.137 others(4324): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4300): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 55 | 0.0182 | 4307 | c.891 others(4322): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(4300): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04199.hp2 |
a0001 | a0001c0010a0001c0016 | a0001c0010t0001a0001c0016t0001 | a0001c0010t0001g0112 a0001c0016t0001g0166 |
2 | 9 | 0.2222 | 4307 | c.723 others(4324): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289727 | C | CCGTGTCT others(4301): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 266 | 0.0038 | 4308 | c.*38 others(4319): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2663 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(4304): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0006 | a0006c0011 | a0006c0011t0041 | a0006c0011t0041g0083 | 1 | 69 | 0.0145 | 4311 | c.*52 others(4322): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
PRRT1B_chr9_131540523_131564815 | 131550941 | T | TTTTTTTT others(4304): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0063 | 1 | 456 | 0.0022 | 4311 | c.26- others(4326): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364414 | C | CACACTCA others(4305): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 288 | 0.0035 | 4312 | c.129 others(4331): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar |