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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(864): Show |
intron_variant | MODIFIER | HG01433.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027a0001c0001t0004g0048 | 2 | 378 | 0.0053 | 871 | c.819 others(888): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(864): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 378 | 0.0027 | 871 | c.819 others(888): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392469 | T | TACACACA others(864): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 378 | 0.0027 | 871 | c.819 others(888): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377282 | C | CCCCCTCT others(864): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 370 | 0.0027 | 871 | c.-13 others(882): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(864): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0168 | 1 | 468 | 0.0021 | 871 | c.-6- others(886): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(864): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0383 | 1 | 468 | 0.0021 | 871 | c.-6- others(886): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(864): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 | 1 | 468 | 0.0021 | 871 | c.-6- others(886): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(864): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0105 | 1 | 202 | 0.0050 | 871 | c.*53 others(882): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ZFP42_chr4_187990771_188010046 | 187992046 | G | GGGGAGAG others(864): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 448 | 0.0022 | 871 | c.-41 others(882): Show |
ZFP42 | ENSG00000179059.10 | transcript | ENST00000326866.5 | protein_coding | 3724 | chr4 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290196 | T | TCCGTCCC others(865): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | 295 | 0.0068 | 872 | c.*33 others(883): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2194 | chr1 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(865): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0138 | 1 | 169 | 0.0059 | 872 | c.48- others(889): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(865): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 334 | 0.0030 | 872 | c.147 others(889): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(865): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01261.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0220a0001c0002t0004g0050a0001c0002t0004g0051 | 3 | 264 | 0.0114 | 872 | c.181 others(891): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(865): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0002a0001c0002t0004a0001c0013t0002 | a0001c0002t0002g0098a0001c0002t0002g0111a0001c0002t0002g0114others(21): Show | 24 | 264 | 0.0909 | 872 | c.181 others(891): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(865): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 264 | 0.0038 | 872 | c.181 others(891): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATACA others(865): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 264 | 0.0038 | 872 | c.181 others(891): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098126 | T | TATATAAA others(865): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19083.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0115a0002c0003t0001g0116 | 2 | 264 | 0.0076 | 872 | c.181 others(891): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(865): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0010 | a0010c0112 | a0010c0112t0081 | a0010c0112t0081g0090 | 1 | 126 | 0.0079 | 872 | c.415 others(893): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(865): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02129.hp2 HG02257.hp2 others(8): Show |
a0001a0002a0025others(2): Show | a0001c0003a0001c0007a0001c0043others(8): Show | a0001c0003t0013a0001c0007t0032a0001c0043t0031others(8): Show | a0001c0003t0013g0026a0001c0007t0032g0033a0001c0043t0031g0044others(8): Show | 11 | 126 | 0.0873 | 872 | c.415 others(893): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(865): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0033 | a0033c0042 | a0033c0042t0004 | a0033c0042t0004g0004 | 1 | 126 | 0.0079 | 872 | c.415 others(893): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAT others(865): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | 872 | c.415 others(893): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713163 | T | TGCCCCTG others(865): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0064 | 1 | 418 | 0.0024 | 872 | c.738 others(887): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | chr16 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325946 | T | TTTGTTTA others(865): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0044 | 1 | 100 | 0.0100 | 872 | c.292 others(891): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251147 | C | CCCACACC others(865): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0062 | 1 | 116 | 0.0086 | 872 | c.207 others(891): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478245 | A | AGAAGAGG others(865): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 88 | 0.0114 | 872 | c.158 others(889): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(865): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | 872 | c.650 others(889): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(865): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 250 | 0.0040 | 872 | c.105 others(887): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(865): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0087 | 1 | 96 | 0.0104 | 872 | c.-16 others(893): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321755 | A | AAAAAAAA others(865): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0048 | 1 | 155 | 0.0065 | 872 | c.-29 others(883): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2960 | chrX | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(865): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 312 | 0.0032 | 872 | c.-41 others(887): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(865): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02015.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0049a0001c0001t0001g0156others(7): Show | 10 | 270 | 0.0370 | 872 | c.104 others(891): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(865): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0075 | 1 | 186 | 0.0054 | 872 | c.956 others(889): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(865): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0246 | 1 | 284 | 0.0035 | 872 | c.126 others(889): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237098 | A | AGGGGAGA others(865): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 872 | c.-41 others(883): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3996 | chr11 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(865): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 422 | 0.0024 | 872 | c.-29 others(883): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930159 | C | CCCCACTG others(865): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0004 | a0001c0006t0001g0218a0001c0007t0004g0078 | 2 | 264 | 0.0076 | 872 | c.180 others(891): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(865): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0050 | a0001c0006t0050g0045 | 1 | 276 | 0.0036 | 872 | c.100 others(891): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45910067 | C | CGGACCCC others(865): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 292 | 0.0034 | 872 | c.471 others(887): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6206842 | G | GCAGCCAG others(865): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 432 | 0.0023 | 872 | c.76+ others(887): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6206842 | G | GCAGCCAG others(865): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0023 | 1 | 432 | 0.0023 | 872 | c.76+ others(887): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099909 | A | ACCCCACA others(865): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0063 | 1 | 67 | 0.0149 | 872 | c.56- others(889): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(865): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0002 | a0001c0001t0020g0145a0001c0002t0002g0081 | 2 | 338 | 0.0059 | 872 | c.-26 others(891): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(865): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 308 | 0.0033 | 872 | c.-75 others(891): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(865): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0158 | 1 | 203 | 0.0049 | 872 | c.-12 others(891): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290196 | T | TCCGTCCC others(865): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0029 | a0029c0025 | a0029c0025t0001 | a0029c0025t0001g0256 | 1 | 290 | 0.0035 | 872 | c.166 others(887): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC44A5_chr1_75197129_75616114 | 75280301 | G | GTATATAT others(865): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02897.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0074a0001c0005t0001g0097 | 2 | 156 | 0.0128 | 872 | c.176 others(889): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(865): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 352 | 0.0028 | 872 | c.-12 others(883): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76438015 | T | TGAAAATT others(865): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0043 | 1 | 102 | 0.0098 | 872 | c.623 others(891): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1627981 | C | CGGGGTGA others(865): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0073 | 1 | 352 | 0.0028 | 872 | c.299 others(887): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(865): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0280 | 1 | 314 | 0.0032 | 872 | c.189 others(889): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |