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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3195): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0079 | a0079c0066 | a0079c0066t0017 | a0079c0066t0017g0258 | 1 | 292 | 0.0034 | 3202 | c.218 others(3217): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149652 | C | CGCCGCCT others(3195): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0029 | a0004c0029t0001 | a0004c0029t0001g0269 | 1 | 294 | 0.0034 | 3202 | c.901 others(3217): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3195): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0037 | 1 | 214 | 0.0047 | 3202 | c.206 others(3221): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3195): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0298 | 1 | 362 | 0.0028 | 3202 | c.-18 others(3223): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3195): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 NA18747.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0014a0001c0001t0015a0001c0001t0036others(2): Show | a0001c0001t0014g0124a0001c0001t0015g0113a0001c0001t0036g0241others(2): Show | 5 | 362 | 0.0138 | 3202 | c.-18 others(3223): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3195): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0118 | 1 | 362 | 0.0028 | 3202 | c.-18 others(3223): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(3196): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0267 | 1 | 276 | 0.0036 | 3203 | c.*52 others(3214): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378230 | C | CATGGAGG others(3196): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 384 | 0.0026 | 3203 | c.215 others(3220): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3196): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0127 | 1 | 362 | 0.0028 | 3203 | c.-18 others(3224): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3196): Show |
intron_variant | MODIFIER | NA19012.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0070 | a0001c0001t0007g0205a0001c0001t0070g0303 | 2 | 362 | 0.0055 | 3203 | c.-18 others(3224): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3196): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0304 | 1 | 362 | 0.0028 | 3203 | c.-18 others(3224): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3196): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0112 | 1 | 362 | 0.0028 | 3203 | c.-18 others(3224): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43911343 | T | TAAAGACT others(3197): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 342 | 0.0029 | 3204 | c.-49 others(3221): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(3197): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 2 | 342 | 0.0059 | 3204 | c.366 others(3221): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3197): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0028 | 1 | 184 | 0.0054 | 3204 | c.280 others(3225): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143860133 | T | TGGCCGGG others(3197): Show |
conservative_inframe_insertion | MODERATE | HG01361.hp1 | a0191 | a0191c0237 | a0191c0237t0001 | a0191c0237t0001g0068 | 1 | 424 | 0.0024 | 3204 | c.131 others(3215): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 13120/15267 | 4374/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860314 | G | GCCTCAGG others(3197): Show |
conservative_inframe_insertion | MODERATE | NA19066.hp2 | a0139 | a0139c0314 | a0139c0314t0019 | a0139c0314t0019g0331 | 1 | 424 | 0.0024 | 3204 | c.973 others(3214): Show |
p.Arg others(3219): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13014/16005 | 12939/15267 | 4313/5088 | chr8 | TogoVar | ||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3197): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0234 | 1 | 318 | 0.0031 | 3204 | c.-91 others(3225): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3197): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 362 | 0.0028 | 3204 | c.-18 others(3225): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3197): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0096 | 1 | 362 | 0.0028 | 3204 | c.-18 others(3225): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3197): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0079 | 1 | 272 | 0.0037 | 3204 | c.389 others(3223): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NBPF9_chr1_149047186_149108551 | 149060924 | C | CACACACA others(3198): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0149 | 1 | 344 | 0.0029 | 3205 | c.230 others(3222): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 23/29 | chr1 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649353 | A | ACCCGGCA others(3198): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 332 | 0.0030 | 3205 | c.112 others(3222): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43911343 | T | TAAAGACT others(3199): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 342 | 0.0029 | 3206 | c.-49 others(3223): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143862200 | T | TCCCCCTG others(3199): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0086 | a0086c0189 | a0086c0189t0001 | a0086c0189t0001g0367 | 1 | 424 | 0.0024 | 3206 | c.110 others(3217): Show |
p.Glu others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11128/16005 | 11053/15267 | 3685/5088 | chr8 | TogoVar | ||
NXN_chr17_794310_984776 | 952257 | C | CAGACCAA others(3199): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 242 | 0.0041 | 3206 | c.360 others(3225): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982850 | T | TTTTATAT others(3199): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 362 | 0.0028 | 3206 | c.-18 others(3227): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771927 | A | AGGGAGGG others(3199): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0007 | a0001c0007t0043 | a0001c0007t0043g0076 | 1 | 272 | 0.0037 | 3206 | c.389 others(3225): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CAGE1_chr6_7321659_7394742 | 7333670 | A | ATGTTTTT others(3200): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 360 | 0.0028 | 3207 | c.243 others(3224): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915958 | G | GTGGTTGA others(3200): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 274 | 0.0037 | 3207 | c.179 others(3226): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3200): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 323 | 0.0031 | 3207 | c.-21 others(3218): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906876 | G | GGAAGGAA others(3200): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0021 | 1 | 62 | 0.0161 | 3207 | c.*13 others(3220): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1079 | chr1 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063860 | G | GAGGGAAG others(3200): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 167 | 0.0060 | 3207 | c.*54 others(3218): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2295 | chr13 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3200): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0090 | 1 | 126 | 0.0079 | 3207 | c.-28 others(3226): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3201): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0013 | 1 | 284 | 0.0035 | 3208 | c.101 others(3227): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3201): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0206 | 1 | 264 | 0.0038 | 3208 | c.400 others(3227): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3201): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19000.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0236a0001c0001t0010g0003a0001c0001t0010g0123 | 3 | 362 | 0.0083 | 3208 | c.-18 others(3229): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3201): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 362 | 0.0028 | 3208 | c.-18 others(3229): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3202): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 236 | 0.0042 | 3209 | c.294 others(3226): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3202): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0128 | 1 | 170 | 0.0059 | 3209 | c.642 others(3226): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1433042 | C | CGGGGTCT others(3203): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 360 | 0.0028 | 3210 | c.92- others(3225): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3203): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 | 1 | 236 | 0.0042 | 3210 | c.294 others(3227): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3203): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 316 | 0.0032 | 3210 | c.44- others(3223): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143864524 | A | ACGGTTCA others(3203): Show |
disruptive_inframe_insertion | MODERATE | HG03491.hp2 | a0269 | a0269c0123 | a0269c0123t0002 | a0269c0123t0002g0337 | 1 | 424 | 0.0024 | 3210 | c.872 others(3219): Show |
p.Arg others(3225): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8804/16005 | 8729/15267 | 2910/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865718 | G | GTCTGGGC others(3203): Show |
disruptive_inframe_insertion | MODERATE | NA18957.hp1 | a0239 | a0239c0076 | a0239c0076t0002 | a0239c0076t0002g0292 | 1 | 424 | 0.0024 | 3210 | c.753 others(3219): Show |
p.Pro others(3225): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7610/16005 | 7535/15267 | 2512/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865718 | G | GTCTGGGC others(3203): Show |
disruptive_inframe_insertion | MODERATE | NA19085.hp2 | a0158 | a0158c0289 | a0158c0289t0002 | a0158c0289t0002g0281 | 1 | 424 | 0.0024 | 3210 | c.753 others(3219): Show |
p.Pro others(3225): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7610/16005 | 7535/15267 | 2512/5088 | chr8 | TogoVar | ||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(3203): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 308 | 0.0033 | 3210 | c.157 others(3227): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(3203): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0145 | 1 | 178 | 0.0056 | 3210 | c.773 others(3225): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 425297 | C | CAGAAGCT others(3204): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0420 | 1 | 432 | 0.0023 | 3211 | c.414 others(3228): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3204): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 316 | 0.0032 | 3211 | c.44- others(3224): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |