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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRTP1_chr13_113319163_113369130 | 113346223 | TGAGAACA others(735): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 288 | 0.0035 | -742 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346646 | GGACCTGG others(735): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 288 | 0.0035 | -742 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154005739 | TTGAGACA others(735): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 290 | 0.0035 | -742 | c.493 others(19): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 35/39 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408249 | GCTAGCGC others(735): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02647.hp2 others(13): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0005a0006c0012t0016 | a0001c0001t0005g0007a0001c0001t0005g0021a0001c0001t0005g0022others(7): Show | 16 | 266 | 0.0602 | -742 | c.*11 others(11): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 230 | chr1 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758814 | CTCCGGAC others(735): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0285a0001c0001t0023g0293 | 2 | 366 | 0.0055 | -742 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88855709 | ACTGCCCC others(734): Show |
A | disruptive_inframe_deletion | MODERATE | HG02717.hp2 | a0085 | a0085c0112 | a0085c0112t0001 | a0085c0112t0001g0160 | 1 | 368 | 0.0027 | -741 | c.318 others(9): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3561/8960 | 3180/7707 | 1060/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
BCAS3_chr17_60672851_61397831 | 61373451 | ATTTTTTT others(734): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG01952.hp2 HG02451.hp2 |
a0001a0002a0003 | a0001c0002a0002c0007a0003c0001 | a0001c0002t0002a0002c0007t0001a0003c0001t0001 | a0001c0002t0002g0057a0002c0007t0001g0004a0003c0001t0001g0007 | 3 | 74 | 0.0405 | -741 | c.259 others(19): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132134721 | CCCGAGTG others(734): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02723.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0023a0002c0002t0004g0004 | 2 | 334 | 0.0060 | -741 | c.*38 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1872 | chr12 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178832342 | GGCCTATT others(734): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(155): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0101a0001c0001t0001g0105a0001c0001t0001g0108others(155): Show | 158 | 232 | 0.6810 | -741 | c.423 others(17): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NKD2_chr5_1003802_1043943 | 1022501 | AGTGGGTG others(734): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0185a0001c0002t0001g0194a0001c0002t0003g0006others(5): Show | 10 | 319 | 0.0314 | -741 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NXN_chr17_794310_984776 | 942202 | CCCTGGAT others(734): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057a0001c0001t0003g0061 | 2 | 242 | 0.0083 | -741 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070874 | GAGCCCCC others(734): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 118 | 0.0085 | -741 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
TBCA_chr5_77686166_77781339 | 77707050 | CACCTCAG others(734): Show |
C | intron_variant | MODIFIER | NA18747.hp2 NA18953.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(2): Show | 5 | 354 | 0.0141 | -741 | c.159 others(16): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
TPCN2_chr11_69043932_69095597 | 69068316 | CGTCTGAG others(734): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0298 | 1 | 404 | 0.0025 | -741 | c.829 others(16): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TULP4_chr6_158307465_158516828 | 158364897 | GGCTAATT others(734): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0015 | a0001c0015t0032 | a0001c0015t0032g0179 | 1 | 268 | 0.0037 | -741 | c.253 others(19): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CCDC200_chr17_43216420_43233623 | 43232883 | TGGGAAGG others(733): Show |
T | upstream_gene_variant | MODIFIER | HG01975.hp1 NA18969.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0183a0001c0002t0001g0122 | 2 | 334 | 0.0060 | -740 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4261 | chr17 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806913 | TTCCCTCC others(733): Show |
T | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 314 | 0.0032 | -740 | c.*27 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2627 | chr2 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149312 | CACACCAC others(733): Show |
C | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 294 | 0.0034 | -740 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(733): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0057 | 1 | 366 | 0.0027 | -740 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746261 | CTCTCCGT others(733): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 366 | 0.0027 | -740 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114005904 | CGGACGCC others(733): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0033others(16): Show | 19 | 67 | 0.2836 | -740 | c.174 others(18): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
ZNF512B_chr20_63951704_63974930 | 63964842 | GACCTGGG others(733): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 356 | 0.0028 | -740 | c.103 others(17): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157089230 | TGGTAAAT others(732): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0097a0006c0006t0001g0042 | 2 | 150 | 0.0133 | -739 | c.249 others(19): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(732): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 320 | 0.0031 | -739 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88950413 | CCGGCACC others(732): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 284 | 0.0035 | -739 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420003 | TTCCATTA others(732): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0405a0003c0003t0002g0370a0003c0003t0002g0381 | 3 | 432 | 0.0069 | -739 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 114870527 | CAAAAAGT others(732): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02735.hp1 HG02818.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0008a0002c0001t0002others(4): Show | a0001c0002t0001g0012a0001c0002t0001g0028a0001c0004t0008g0045others(6): Show | 9 | 56 | 0.1607 | -739 | c.60+ others(19): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170398534 | ACTCTTAG others(732): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03225.hp2 |
a0005 | a0005c0007 | a0005c0007t0012 | a0005c0007t0012g0002 | 2 | 289 | 0.0069 | -739 | c.269 others(19): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUCA1_chr1_23840077_23873290 | 23860452 | TGGGCGCC others(732): Show |
T | intron_variant | MODIFIER | NA18959.hp2 NA18981.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0222a0003c0003t0001g0223 | 2 | 380 | 0.0053 | -739 | c.663 others(16): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805485 | CTCCCCCC others(732): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0014 | 2 | 314 | 0.0064 | -739 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1199 | chr2 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346672 | GCGGATCT others(732): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 288 | 0.0035 | -739 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
IDI1_chr10_1034419_1054119 | 1046860 | TCTGTCTA others(732): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(19): Show | 155 | 438 | 0.3539 | -739 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2034994 | CGGGTGCA others(732): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0026 | 1 | 104 | 0.0096 | -739 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805485 | CTCCCCCC others(732): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 319 | 0.0031 | -739 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3707 | chr2 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 745127 | GCCGTGGA others(732): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 366 | 0.0027 | -739 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 745496 | CCCCGGGG others(732): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0038 | 1 | 366 | 0.0027 | -739 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 745781 | CCCCGGGG others(732): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 366 | 0.0027 | -739 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746293 | CCCGGGGG others(732): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 366 | 0.0027 | -739 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1112791 | GTGAGGTT others(732): Show |
G | intron_variant | MODIFIER | HG03710.hp1 NA21309.hp2 |
a0003a0007 | a0003c0007a0007c0016 | a0003c0007t0001a0007c0016t0001 | a0003c0007t0001g0080a0007c0016t0001g0135 | 2 | 190 | 0.0105 | -739 | c.325 others(19): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBGCP2_chr10_133273635_133313872 | 133291723 | ATGTCCCT others(732): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 284 | 0.0035 | -739 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15931087 | AAGGGAGT others(731): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0003 | a0003c0003t0151 | a0003c0003t0151g0072 | 1 | 386 | 0.0026 | -738 | c.199 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11873481 | CAGCTGTT others(731): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(106): Show | a0001c0001t0001g0040a0001c0001t0001g0051a0001c0001t0001g0079others(166): Show | 169 | 262 | 0.6450 | -738 | c.100 others(19): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876726 | GTTAGGGA others(731): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0058 | a0002c0058t0020 | a0002c0058t0020g0092 | 1 | 274 | 0.0037 | -738 | c.224 others(19): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023505 | GTTGTCTC others(731): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 319 | 0.0031 | -738 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
OSBPL6_chr2_178189512_178407893 | 178252409 | AAAACTTT others(731): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0086 | a0001c0004t0086g0092 | 1 | 200 | 0.0050 | -738 | c.-35 others(21): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 745440 | CCGGGGGT others(731): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0040 | 1 | 366 | 0.0027 | -738 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 745838 | CCCGGGGG others(731): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0005 | 1 | 366 | 0.0027 | -738 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746412 | GGGGTCGC others(731): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 366 | 0.0027 | -738 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PRKG2_chr4_81082375_81220222 | 81188650 | TAAGAAAA others(731): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0050others(117): Show | 122 | 250 | 0.4880 | -738 | c.462 others(19): Show |
PRKG2 | ENSG00000138669.10 | transcript | ENST00000264399.6 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 647276 | AGCCTCCC others(731): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0170a0001c0001t0171others(6): Show | a0001c0001t0019g0082a0001c0001t0170g0066a0001c0001t0171g0157others(6): Show | 9 | 220 | 0.0409 | -738 | c.*27 others(11): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 2722 | INFO_REALIGN_3_PRIME | chrX | TogoVar |