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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 418 | 0.0024 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0171a0001c0001t0001g0206a0001c0001t0001g0252others(3): Show | 6 | 418 | 0.0144 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02074.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0008a0001c0001t0001g0170a0001c0001t0001g0180others(3): Show | 7 | 418 | 0.0168 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262244 | T | TAGATCTA others(938): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 290 | 0.0035 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(938): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 290 | 0.0035 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(938): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0249 | 1 | 290 | 0.0035 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(938): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0006a0001c0001t0006g0009a0001c0002t0001g0008 | 3 | 40 | 0.0750 | 945 | c.347 others(966): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(938): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 40 | 0.0250 | 945 | c.347 others(966): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1298686 | T | TCCTACCC others(938): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0050 | 1 | 159 | 0.0063 | 945 | c.811 others(962): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(938): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0082 | 1 | 238 | 0.0042 | 945 | c.635 others(962): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(938): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18945.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0179a0002c0001t0001g0113 | 2 | 208 | 0.0096 | 945 | c.282 others(964): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(938): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0036 | 1 | 134 | 0.0075 | 945 | c.520 others(966): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(938): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 314 | 0.0032 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(938): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 314 | 0.0032 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCACCACC others(938): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 314 | 0.0032 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152653 | C | CTACCACC others(938): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 274 | 0.0037 | 945 | c.804 others(962): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IDI1_chr10_1034419_1054119 | 1038848 | C | CACAGGGA others(938): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 438 | 0.0023 | 945 | c.*23 others(956): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 570 | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(938): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0196 | 1 | 312 | 0.0032 | 945 | c.-41 others(960): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(938): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0051 | 1 | 318 | 0.0031 | 945 | c.-49 others(956): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(938): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0190 | 1 | 278 | 0.0036 | 945 | c.115 others(962): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876829 | T | TGGAGGTT others(938): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 274 | 0.0037 | 945 | c.224 others(964): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877315 | G | GGGAAGTT others(938): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0265 | 1 | 274 | 0.0037 | 945 | c.224 others(964): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(938): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(17): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0002others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0079a0001c0001t0001g0133others(14): Show | 20 | 280 | 0.0714 | 945 | c.641 others(960): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1861913 | T | TGGATCTG others(938): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 NA18971.hp2 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0001a0001c0003t0025a0001c0019t0002 | a0001c0003t0001g0023a0001c0003t0025g0055a0001c0019t0002g0061 | 3 | 104 | 0.0289 | 945 | c.271 others(966): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1398077 | A | AGGGTGTT others(938): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 382 | 0.0026 | 945 | c.*48 others(956): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4854 | chr4 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097052 | T | TCCTCACT others(938): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 66 | 0.0152 | 945 | c.234 others(960): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(938): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 178 | 0.0056 | 945 | c.773 others(960): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PASK_chr2_241101099_241154472 | 241116044 | T | TCAAGCAT others(938): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0148 | 1 | 376 | 0.0027 | 945 | c.307 others(962): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137517966 | G | GTCCACTC others(938): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0161 | 1 | 188 | 0.0053 | 945 | c.108 others(964): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCTTCCT others(938): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 227 | 0.0044 | 945 | c.*23 others(956): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(938): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0071a0001c0001t0001g0088a0001c0001t0001g0091others(13): Show | 16 | 220 | 0.0727 | 945 | c.24+ others(962): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(938): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0134 | 1 | 220 | 0.0046 | 945 | c.24+ others(962): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803045 | C | CGGATGGG others(938): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0160 | 1 | 330 | 0.0030 | 945 | c.-51 others(956): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4902 | chr9 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 412 | 0.0049 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 412 | 0.0049 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02083.hp2 HG02683.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0001 | 5 | 412 | 0.0121 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 412 | 0.0049 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 412 | 0.0024 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(938): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 412 | 0.0024 | 945 | c.-48 others(956): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SCAMP4_chr19_1900399_1931013 | 1923869 | C | CCCACCTC others(938): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0174 | 1 | 442 | 0.0023 | 945 | c.514 others(960): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCAMP4_chr19_1900399_1931013 | 1923869 | C | CCCGCCTC others(938): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0116a0001c0004t0008g0117 | 2 | 442 | 0.0045 | 945 | c.514 others(960): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCAMP4_chr19_1900399_1931013 | 1923912 | A | ACCGTGCC others(938): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0307 | 1 | 442 | 0.0023 | 945 | c.514 others(960): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCAMP4_chr19_1900399_1931013 | 1923921 | G | GGCCTATT others(938): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0306 | 1 | 442 | 0.0023 | 945 | c.514 others(960): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCAMP4_chr19_1900399_1931013 | 1924006 | T | TGCCTCGG others(938): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 442 | 0.0023 | 945 | c.514 others(958): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCAMP4_chr19_1900399_1931013 | 1924006 | T | TGCCTCGG others(938): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 442 | 0.0045 | 945 | c.514 others(958): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(938): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 324 | 0.0031 | 945 | c.115 others(962): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(938): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0101 | 1 | 376 | 0.0027 | 945 | c.101 others(962): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(938): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0228 | 1 | 376 | 0.0027 | 945 | c.101 others(962): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(938): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 445 | 0.0023 | 945 | c.-15 others(956): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | ||||||
SLC39A9_chr14_69393692_69467390 | 69411792 | T | TCAAGTTA others(938): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 326 | 0.0031 | 945 | c.97- others(962): Show |
SLC39A9 | ENSG00000029364.12 | transcript | ENST00000336643.10 | protein_coding | 1/6 | chr14 | TogoVar |