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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2472): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0030 | a0030c0024 | a0030c0024t0063 | a0030c0024t0063g0266 | 1 | 292 | 0.0034 | 2479 | c.218 others(2494): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 158 | 0.0063 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02293.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082 a0001c0001t0002g0013 a0001c0001t0002g0034 |
3 | 158 | 0.0190 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 158 | 0.0063 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0003g0112 |
2 | 158 | 0.0127 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 158 | 0.0063 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2472): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00609.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 others(34): Show |
37 | 158 | 0.2342 | 2479 | c.226 others(2498): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2472): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 350 | 0.0029 | 2479 | c.440 others(2496): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2472): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02723.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0024 |
3 | 350 | 0.0086 | 2479 | c.440 others(2496): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2472): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0066 |
2 | 350 | 0.0057 | 2479 | c.440 others(2496): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2472): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0155 | 1 | 350 | 0.0029 | 2479 | c.440 others(2496): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301984 | C | CTATCACC others(2472): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 350 | 0.0029 | 2479 | c.440 others(2496): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2472): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0278 | 1 | 326 | 0.0031 | 2479 | c.*56 others(2490): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2473): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 | 1 | 334 | 0.0030 | 2480 | c.147 others(2497): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2473): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 432 | 0.0023 | 2480 | c.103 others(2497): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2473): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0050 | 1 | 96 | 0.0104 | 2480 | c.-16 others(2501): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(2473): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 80 | 0.0125 | 2480 | c.125 others(2497): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2473): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0009 a0001c0001t0003g0111 |
2 | 158 | 0.0127 | 2480 | c.226 others(2499): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2473): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 158 | 0.0063 | 2480 | c.226 others(2499): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2473): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0169 | 1 | 276 | 0.0036 | 2480 | c.58- others(2497): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2473): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0002g0206 a0001c0001t0002g0239 a0001c0002t0002g0240 others(2): Show |
5 | 276 | 0.0181 | 2480 | c.58- others(2497): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2473): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0235 | 1 | 390 | 0.0026 | 2480 | c.259 others(2497): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377445 | T | TGTGCCCC others(2473): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0119 | 1 | 370 | 0.0027 | 2480 | c.-14 others(2491): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1420 | chr19 | TogoVar | |||||||
VKORC1_chr16_31085854_31099797 | 31098806 | T | TAGAAGCC others(2473): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 310 | 0.0032 | 2480 | c.-40 others(2491): Show |
VKORC1 | ENSG00000167397.15 | transcript | ENST00000394975.3 | protein_coding | 4010 | chr16 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(2474): Show |
intron_variant | MODIFIER | HG02717.hp2 NA21309.hp2 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0005a0001c0007t0004 | a0001c0004t0005g0081 a0001c0007t0004g0083 |
2 | 344 | 0.0058 | 2481 | c.127 others(2498): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(2474): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0082 | 1 | 344 | 0.0029 | 2481 | c.127 others(2498): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(2474): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 376 | 0.0027 | 2481 | c.63+ others(2494): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CDC23_chr5_138182650_138218323 | 138211660 | C | CAAAAAAA others(2474): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 392 | 0.0026 | 2481 | c.234 others(2498): Show |
CDC23 | ENSG00000094880.11 | transcript | ENST00000394886.7 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 33149003 | T | TTGTTTTT others(2474): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0021 | a0021c0076 | a0021c0076t0011 | a0021c0076t0011g0149 | 1 | 196 | 0.0051 | 2481 | c.186 others(2500): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 4/20 | chr15 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2474): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 346 | 0.0029 | 2481 | c.-17 others(2492): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(2474): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 314 | 0.0032 | 2481 | c.-25 others(2498): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(2474): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0190 | 1 | 322 | 0.0031 | 2481 | c.*48 others(2492): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2474): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0000 | 1 | 375 | 0.0027 | 2481 | c.*44 others(2492): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2474): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2481 | c.*44 others(2492): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2475): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0079 | 1 | 374 | 0.0027 | 2482 | c.166 others(2499): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706325 | G | GATAGATA others(2475): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 292 | 0.0034 | 2482 | c.228 others(2499): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706325 | G | GATAGATA others(2475): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0306 | 1 | 369 | 0.0027 | 2482 | c.-50 others(2493): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4875 | chr4 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 33149003 | T | TTGTTTTT others(2475): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0021 | a0021c0075 | a0021c0075t0012 | a0021c0075t0012g0116 | 1 | 196 | 0.0051 | 2482 | c.186 others(2501): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 4/20 | chr15 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2475): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2482 | c.*32 others(2493): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2475): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 272 | 0.0037 | 2482 | c.389 others(2501): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(2475): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0081 | 1 | 144 | 0.0069 | 2482 | c.427 others(2501): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295518 | A | AAGCAGAA others(2476): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0015 | a0015c0004 | a0015c0004t0002 | a0015c0004t0002g0024 | 1 | 24 | 0.0417 | 2483 | c.619 others(2504): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2476): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0026 | a0026c0029 | a0026c0029t0005 | a0026c0029t0005g0015 | 1 | 362 | 0.0028 | 2483 | c.281 others(2504): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(2476): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 144 | 0.0069 | 2483 | c.427 others(2502): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819317 | C | CCCCTCCC others(2477): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0014 | 1 | 66 | 0.0152 | 2484 | c.56- others(2497): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2477): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 2484 | c.*22 others(2495): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(2477): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 274 | 0.0037 | 2484 | c.224 others(2503): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2477): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 |
a0001a0018 | a0001c0002a0018c0032 | a0001c0002t0005a0018c0032t0005 | a0001c0002t0005g0036 a0018c0032t0005g0022 |
2 | 362 | 0.0055 | 2484 | c.281 others(2505): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(2477): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 402 | 0.0025 | 2484 | c.-42 others(2495): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431930 | A | ACAGGGTG others(2477): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0045 | 1 | 376 | 0.0027 | 2484 | c.101 others(2503): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar |