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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLAAT5_chr11_63456404_63496167 | 63461519 | T | TAAGAAGC others(6098): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0101 | 1 | 358 | 0.0028 | 6105 | c.*19 others(6116): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 6/6 | 1983 | chr11 | TogoVar | ||||||
PRR20B_chr13_57142488_57155509 | 57151032 | A | ATCTGTCT others(6098): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0002 | 1 | 168 | 0.0060 | 6105 | c.*14 others(6116): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 524 | chr13 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6098): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0289 | 1 | 328 | 0.0031 | 6105 | c.124 others(6124): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31236501 | T | TAAGAGGA others(6098): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 212 | 0.0047 | 6105 | c.158 others(6124): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | |||||||
TTC8_chr14_88819651_88882988 | 88847210 | T | TTAAAAAC others(6098): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 400 | 0.0025 | 6105 | c.624 others(6122): Show |
TTC8 | ENSG00000165533.19 | transcript | ENST00000380656.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FANCC_chr9_95094054_95322709 | 95234182 | T | TAAAAGGT others(6099): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0041 | 1 | 278 | 0.0036 | 6106 | c.345 others(6123): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 4/14 | chr9 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117786317 | T | TTATTTTT others(6099): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0173 | 1 | 196 | 0.0051 | 6106 | c.473 others(6125): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6099): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 140 | 0.0071 | 6106 | c.246 others(6123): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128982982 | T | TGTGCCAC others(6100): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0026 | a0002c0026t0002 | a0002c0026t0002g0016 | 1 | 88 | 0.0114 | 6107 | c.113 others(6126): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
OR1S1_chr11_58207720_58221084 | 58217924 | T | TTAAAGAA others(6100): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 460 | 0.0044 | 6107 | c.*22 others(6118): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 1841 | chr11 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 367027 | C | CAAAACAA others(6100): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0006 | a0006c0013 | a0006c0013t0006 | a0006c0013t0006g0025 | 1 | 25 | 0.0400 | 6107 | c.325 others(6124): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212340300 | G | GTGATACA others(6100): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 384 | 0.0026 | 6107 | c.481 others(6124): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33520697 | T | TAAAAGAC others(6100): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0013 | a0013c0124 | a0013c0124t0003 | a0013c0124t0003g0047 | 1 | 154 | 0.0065 | 6107 | c.280 others(6124): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 3/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 173031327 | G | GCACAAAT others(6100): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0001 | 1 | 200 | 0.0050 | 6107 | c.759 others(6126): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35512275 | T | TAATGATG others(6101): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 228 | 0.0044 | 6108 | c.312 others(6127): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31277883 | T | TAAAACTA others(6102): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 126 | 0.0079 | 6109 | c.922 others(6130): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104823558 | A | AGAAACAT others(6102): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 346 | 0.0029 | 6109 | c.534 others(6126): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84004820 | T | TGAAAGTA others(6102): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 276 | 0.0036 | 6109 | c.136 others(6126): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 11/16 | chr7 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173031327 | G | GCACAAAT others(6102): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0002 a0005c0009t0002g0003 |
2 | 200 | 0.0100 | 6109 | c.759 others(6128): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5931539 | A | ACTGGTAA others(6103): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 162 | 0.0062 | 6110 | c.23- others(6125): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154263429 | T | TAGGGAGT others(6103): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 264 | 0.0038 | 6110 | c.36+ others(6125): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
NCK1_chr3_136857208_136956606 | 136930216 | T | TGAAAGTT others(6103): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 232 | 0.0043 | 6110 | c.226 others(6127): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OR13F1_chr9_104499263_104510222 | 104505292 | G | GAAACTAC others(6103): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 440 | 0.0023 | 6110 | c.*70 others(6117): Show |
OR13F1 | ENSG00000186881.3 | transcript | ENST00000334726.3 | protein_coding | 71 | chr9 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6103): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0260 | 1 | 328 | 0.0031 | 6110 | c.124 others(6129): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 173031327 | G | GCACAAAT others(6103): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0084 |
2 | 200 | 0.0100 | 6110 | c.759 others(6129): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
TSPAN5_chr4_98465367_98663611 | 98511753 | A | AAATTAAT others(6103): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0232 | 1 | 236 | 0.0042 | 6110 | c.82- others(6125): Show |
TSPAN5 | ENSG00000168785.8 | transcript | ENST00000305798.8 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13594174 | T | TAAGCAAA others(6104): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0214 | 1 | 258 | 0.0039 | 6111 | c.810 others(6130): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 12/25 | chr4 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6104): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 390 | 0.0026 | 6111 | c.109 others(6126): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6104): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 6111 | c.*20 others(6122): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6104): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 6111 | c.*20 others(6122): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(6104): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 323 | 0.0031 | 6111 | c.-85 others(6130): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 173031327 | G | GCACAAAT others(6104): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 200 | 0.0050 | 6111 | c.759 others(6130): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173031327 | G | GCACAAAT others(6104): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0104 |
2 | 200 | 0.0100 | 6111 | c.759 others(6130): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6105): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0032 | a0001c0032t0002 | a0001c0032t0002g0267 | 1 | 344 | 0.0029 | 6112 | c.127 others(6129): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6105): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 446 | 0.0022 | 6112 | c.*20 others(6123): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6105): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 6112 | c.*20 others(6123): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6105): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18971.hp1 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 3 | 446 | 0.0067 | 6112 | c.*20 others(6123): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6105): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 340 | 0.0029 | 6112 | c.278 others(6131): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0010 |
2 | 446 | 0.0045 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 446 | 0.0022 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 NA18963.hp2 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0010 |
3 | 446 | 0.0067 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 NA18941.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0008 |
2 | 446 | 0.0045 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 446 | 0.0022 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
C10orf120_chr10_122692709_122704846 | 122695700 | T | TAAGAAAA others(6106): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 6113 | c.*20 others(6124): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2008 | chr10 | TogoVar | |||||||
KDM4E_chr11_95020258_95032596 | 95025445 | T | TAAACCAA others(6106): Show |
5_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0009 | a0009c0017 | a0009c0017t0008 | a0009c0017t0008g0000 | 1 | 462 | 0.0022 | 6113 | c.-98 others(6120): Show |
KDM4E | ENSG00000235268.2 | transcript | ENST00000450979.2 | protein_coding | 1/1 | 97 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6106): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0047 | 1 | 434 | 0.0023 | 6113 | c.209 others(6130): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6106): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0038 | a0001c0038t0016 | a0001c0038t0016g0118 | 1 | 340 | 0.0029 | 6113 | c.278 others(6132): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6106): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0121 | 1 | 340 | 0.0029 | 6113 | c.278 others(6132): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6106): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0264 | 1 | 340 | 0.0029 | 6113 | c.278 others(6132): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar |