| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DPP6_chr7_154047398_154899285 | 154779089 | C | CTCTACCA others(534): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 NA20905.hp1 |
a0001a0002 | a0001c0020a0002c0005a0002c0028 | a0001c0020t0001a0002c0005t0024a0002c0028t0002 | a0001c0020t0001g0010a0002c0005t0024g0031a0002c0028t0002g0016 | 3 | 38 | 0.0790 | 541 | c.113 others(560): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DPP6_chr7_154047398_154899285 | 154779089 | C | CTCTACCA others(534): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03453.hp1 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0008a0002c0026 | a0001c0001t0005a0002c0008t0006a0002c0026t0026 | a0001c0001t0005g0032a0002c0008t0006g0034a0002c0026t0026g0006 | 3 | 38 | 0.0790 | 541 | c.113 others(560): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DYM_chr18_49031387_49465645 | 49440818 | T | TTATATAA others(534): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150a0001c0002t0001g0151 | 2 | 290 | 0.0069 | 541 | c.-53 others(560): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49440818 | T | TTATATAA others(534): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 290 | 0.0035 | 541 | c.-53 others(560): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| EFCAB6_chr22_43523778_43817305 | 43730279 | G | GGAAGGAG others(534): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0184 | 1 | 290 | 0.0035 | 541 | c.757 others(558): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328439 | G | GATGAGTA others(534): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02683.hp1 |
a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0012a0009c0008t0001g0013 | 2 | 82 | 0.0244 | 541 | c.199 others(560): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATAAA others(534): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 344 | 0.0029 | 541 | c.617 others(558): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| GALNS_chr16_88808734_88861947 | 88831205 | C | CGAGGAGA others(534): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0044 | 1 | 404 | 0.0025 | 541 | c.100 others(558): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308404 | T | TCATCACC others(534): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19011.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041a0001c0003t0001g0093 | 2 | 422 | 0.0047 | 541 | c.961 others(558): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(534): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 206 | 0.0049 | 541 | c.-38 others(558): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(534): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096a0001c0001t0002g0154 | 2 | 206 | 0.0097 | 541 | c.-38 others(558): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(534): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0081 | 1 | 206 | 0.0049 | 541 | c.-38 others(558): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(534): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0060a0001c0001t0065 | a0001c0001t0050g0016a0001c0001t0060g0023a0001c0001t0065g0021 | 3 | 206 | 0.0146 | 541 | c.-38 others(558): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(534): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0024others(6): Show | a0001c0001t0011g0119a0001c0001t0012g0174a0001c0001t0024g0056others(6): Show | 9 | 206 | 0.0437 | 541 | c.-38 others(558): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240625870 | T | TGGGGTGA others(534): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0037 | 2 | 400 | 0.0050 | 541 | c.-5+ others(554): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IFT122_chr3_129435224_129525507 | 129516551 | C | CACACACA others(534): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02056.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013a0002c0002t0001g0014a0002c0002t0001g0306others(2): Show | 7 | 356 | 0.0197 | 541 | c.326 others(558): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(534): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 252 | 0.0040 | 541 | c.10- others(558): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(534): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0003a0005 | a0003c0005a0005c0013 | a0003c0005t0025a0005c0013t0025 | a0003c0005t0025g0024a0005c0013t0025g0115 | 2 | 282 | 0.0071 | 541 | c.258 others(558): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(534): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 312 | 0.0032 | 541 | c.-41 others(556): 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(534): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0230 | 2 | 312 | 0.0064 | 541 | c.-41 others(556): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KREMEN1_chr22_29068035_29151820 | 29120078 | A | AGGAAACA others(534): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0349 | 1 | 368 | 0.0027 | 541 | c.353 others(558): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62360517 | G | GGGTGGAG others(534): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0055 | a0055c0133 | a0055c0133t0001 | a0055c0133t0001g0057 | 1 | 186 | 0.0054 | 541 | c.450 others(558): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857669 | A | ACGGGACC others(534): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0092 | 1 | 294 | 0.0034 | 541 | c.153 others(560): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858496 | C | CAGTGGTG others(534): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0088 | 1 | 294 | 0.0034 | 541 | c.153 others(560): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858519 | C | CAGTGGTG others(534): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 294 | 0.0034 | 541 | c.153 others(560): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRRC14_chr8_144512992_144530172 | 144513804 | G | GAGGGGTC others(534): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0001 | 1 | 414 | 0.0024 | 541 | c.-43 others(552): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4187 | chr8 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531192 | G | GAGCAGCA others(534): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 541 | c.-42 others(552): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4160 | chr8 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19477972 | A | AGAGAGAG others(534): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0157 | 1 | 163 | 0.0061 | 541 | c.525 others(558): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144513804 | G | GAGGGGTC others(534): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 400 | 0.0025 | 541 | c.*26 others(552): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2592 | chr8 | TogoVar | ||||||
| MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(534): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 |
a0001a0006 | a0001c0005a0006c0021 | a0001c0005t0022a0006c0021t0007 | a0001c0005t0022g0221a0006c0021t0007g0220 | 2 | 360 | 0.0056 | 541 | c.57+ others(558): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| OSGIN1_chr16_83948240_83971332 | 83951890 | T | TCCCTCCC others(534): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01168.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0013a0001c0001t0002g0161others(18): Show | 26 | 350 | 0.0743 | 541 | c.-15 others(552): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1349 | chr16 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83951890 | T | TCCCTCCC others(534): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0237 | 1 | 350 | 0.0029 | 541 | c.-15 others(552): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1349 | chr16 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45910132 | C | CGCCACCC others(534): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 292 | 0.0034 | 541 | c.471 others(556): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401197 | C | CGCCCCGC others(534): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0156 | 1 | 216 | 0.0046 | 541 | c.173 others(558): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114099798 | C | CCCCACAG others(534): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 67 | 0.0149 | 541 | c.56- others(558): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59750547 | T | TATATATA others(534): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 172 | 0.0058 | 541 | c.242 others(558): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59750547 | T | TATATATA others(534): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 172 | 0.0058 | 541 | c.242 others(558): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668515 | C | CACCCTCA others(534): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0056 | a0003c0056t0004 | a0003c0056t0004g0037 | 1 | 262 | 0.0038 | 541 | c.249 others(560): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739862 | C | CAGGGAGT others(534): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 445 | 0.0023 | 541 | c.-30 others(552): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3008 | chr17 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401197 | C | CGCCCCGC others(534): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 242 | 0.0041 | 541 | c.*46 others(552): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4518 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116947170 | T | TATTATTT others(534): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04228.hp1 NA18956.hp1 |
a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0152a0002c0004t0006g0364a0002c0004t0006g0365 | 3 | 366 | 0.0082 | 541 | c.454 others(558): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116947170 | T | TATTATTT others(534): Show |
intron_variant | MODIFIER | HG04184.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0006 | a0001c0001t0001g0164a0002c0004t0006g0166 | 2 | 366 | 0.0055 | 541 | c.454 others(558): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2280743 | C | CGAGAAGA others(534): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 330 | 0.0030 | 541 | c.970 others(560): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(534): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 300 | 0.0033 | 541 | c.626 others(558): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(534): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18941.hp2 NA18973.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0039a0001c0002t0008 | a0001c0001t0001g0179a0001c0001t0039g0067a0001c0002t0008g0130 | 3 | 222 | 0.0135 | 541 | c.914 others(560): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768606 | G | GGAGGGAG others(534): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 256 | 0.0039 | 541 | c.*22 others(552): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1888 | chr12 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637258 | A | ATATATTA others(534): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0258 | 1 | 268 | 0.0037 | 541 | c.*71 others(552): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3724 | chr10 | TogoVar | ||||||
| SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(534): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0269 | 1 | 276 | 0.0036 | 541 | c.-18 others(560): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(534): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 112 | 0.0089 | 541 | c.142 others(562): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628493 | A | ACGGGGGT others(534): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0284 | 1 | 352 | 0.0028 | 541 | c.299 others(558): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar |