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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD4C_chr19_400445_414147 | 411092 | A | ACGGATCC others(3360): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0030 | 1 | 322 | 0.0031 | 3367 | c.-21 others(3378): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1946 | chr19 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3360): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 264 | 0.0038 | 3367 | c.400 others(3386): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3360): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0214 | 1 | 216 | 0.0046 | 3367 | c.-51 others(3386): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3360): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0109 | 1 | 276 | 0.0036 | 3367 | c.58- others(3384): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ANO2_chr12_5557655_5950259 | 5931559 | T | TAAGGAAA others(3361): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 162 | 0.0062 | 3368 | c.23- others(3383): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3361): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 236 | 0.0042 | 3368 | c.294 others(3385): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3361): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0084 | 1 | 282 | 0.0036 | 3368 | c.258 others(3385): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3361): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0131 | 1 | 282 | 0.0036 | 3368 | c.258 others(3385): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(3361): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 290 | 0.0035 | 3368 | c.129 others(3385): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3361): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0008 | 1 | 216 | 0.0046 | 3368 | c.-51 others(3387): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RGS12_chr4_3288021_3444913 | 3341575 | A | AGGGGAGG others(3361): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0102 | 1 | 312 | 0.0032 | 3368 | c.188 others(3387): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3362): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 282 | 0.0036 | 3369 | c.258 others(3386): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3362): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0174 | 1 | 282 | 0.0036 | 3369 | c.258 others(3386): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3362): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0069 | a0032c0069t0001 | a0032c0069t0001g0069 | 1 | 186 | 0.0054 | 3369 | c.723 others(3386): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3363): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 264 | 0.0038 | 3370 | c.400 others(3389): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3363): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0113 | 1 | 282 | 0.0036 | 3370 | c.258 others(3387): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3363): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01993.hp1 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045a0001c0003t0001g0157a0001c0003t0001g0206 | 3 | 282 | 0.0106 | 3370 | c.258 others(3387): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3363): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 282 | 0.0036 | 3370 | c.258 others(3387): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(3363): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 242 | 0.0041 | 3370 | c.361 others(3389): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3363): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 351 | 0.0029 | 3370 | c.-45 others(3381): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3364): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0046 | 1 | 216 | 0.0046 | 3371 | c.-51 others(3390): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(3364): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 NA19004.hp2 NA19009.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 4 | 445 | 0.0090 | 3371 | c.-25 others(3382): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3364): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 | 1 | 351 | 0.0029 | 3371 | c.-45 others(3382): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3364): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280a0001c0001t0003g0281 | 2 | 351 | 0.0057 | 3371 | c.-45 others(3382): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3364): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 351 | 0.0029 | 3371 | c.-45 others(3382): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(3364): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA18945.hp2 NA18969.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002a0003c0004t0003g0060 | 7 | 431 | 0.0162 | 3371 | c.*26 others(3382): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3365): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 268 | 0.0037 | 3372 | c.139 others(3393): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3365): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0071 | a0071c0080 | a0071c0080t0001 | a0071c0080t0001g0054 | 1 | 186 | 0.0054 | 3372 | c.723 others(3389): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(3365): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 445 | 0.0023 | 3372 | c.-25 others(3383): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3366): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 266 | 0.0038 | 3373 | c.-34 others(3388): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3367): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG03491.hp1 others(10): Show |
a0001 | a0001c0004a0001c0008a0001c0014 | a0001c0004t0005a0001c0004t0013a0001c0008t0001others(1): Show | a0001c0004t0005g0051a0001c0004t0005g0052a0001c0004t0005g0266others(8): Show | 13 | 390 | 0.0333 | 3374 | c.109 others(3389): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3367): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0274 | 1 | 390 | 0.0026 | 3374 | c.109 others(3389): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3367): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0275 | 1 | 390 | 0.0026 | 3374 | c.109 others(3389): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3367): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 292 | 0.0034 | 3374 | c.228 others(3391): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706381 | C | CATAGATA others(3367): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0073 | 1 | 292 | 0.0034 | 3374 | c.228 others(3391): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163241 | C | CCCTCCAC others(3367): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 |
a0008 | a0008c0016 | a0008c0016t0007a0008c0016t0061 | a0008c0016t0007g0058a0008c0016t0061g0015 | 2 | 282 | 0.0071 | 3374 | c.258 others(3391): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3368): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18994.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0049a0001c0004t0005g0050 | 4 | 390 | 0.0103 | 3375 | c.109 others(3390): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(3368): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03209.hp2 |
a0001a0004 | a0001c0004a0004c0017 | a0001c0004t0004a0004c0017t0004 | a0001c0004t0004g0060a0004c0017t0004g0059 | 2 | 282 | 0.0071 | 3375 | c.286 others(3392): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTK2_chr8_140652900_141006282 | 140991881 | C | CGCCTGTA others(3368): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 290 | 0.0035 | 3375 | c.-12 others(3394): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140995083 | C | CAAAAAAA others(3369): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0262a0001c0003t0003g0263a0001c0003t0003g0264others(2): Show | 5 | 290 | 0.0172 | 3376 | c.-12 others(3395): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3370): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0331 | 1 | 352 | 0.0028 | 3377 | c.839 others(3394): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(3370): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 289 | 0.0035 | 3377 | c.269 others(3396): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3371): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 292 | 0.0034 | 3378 | c.228 others(3395): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3371): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 292 | 0.0034 | 3378 | c.228 others(3395): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(3371): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 369 | 0.0027 | 3378 | c.-50 others(3389): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(3371): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0115 | 1 | 369 | 0.0027 | 3378 | c.-50 others(3389): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3371): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0123 | 1 | 369 | 0.0027 | 3378 | c.-50 others(3389): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3371): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 323 | 0.0031 | 3378 | c.-21 others(3389): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(3371): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 3378 | c.*44 others(3389): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACACAT others(3371): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 | 1 | 392 | 0.0026 | 3378 | c.228 others(3397): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar |