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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLTCL1_chr22_19174473_19296719 | 19202402 | C | CCGCCATC others(780): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0018 | a0018c0019 | a0018c0019t0003 | a0018c0019t0003g0096 | 1 | 346 | 0.0029 | 787 | c.360 others(804): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(780): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 342 | 0.0029 | 787 | c.844 others(804): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098126 | T | TATAAAAA others(780): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 264 | 0.0038 | 787 | c.181 others(806): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(780): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 344 | 0.0029 | 787 | c.85- others(804): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01074.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0037others(8): Show | a0001c0001t0002g0122a0001c0001t0005g0055a0001c0001t0005g0119others(13): Show | 16 | 272 | 0.0588 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 272 | 0.0037 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0117 | 1 | 272 | 0.0037 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0013 | a0013c0055 | a0013c0055t0007 | a0013c0055t0007g0257 | 1 | 272 | 0.0037 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0009a0001c0003t0003a0001c0003t0010others(5): Show | a0001c0001t0009g0233a0001c0003t0003g0255a0001c0003t0010g0259others(5): Show | 8 | 272 | 0.0294 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0012 | a0001c0012t0039 | a0001c0012t0039g0230 | 1 | 272 | 0.0037 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(780): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0247 | 1 | 272 | 0.0037 | 787 | c.109 others(806): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647319 | C | CCTCCTCC others(780): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02717.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0010a0003c0003t0001 | a0001c0001t0001g0121a0001c0001t0010g0035a0003c0003t0001g0217others(1): Show | 4 | 276 | 0.0145 | 787 | c.*51 others(798): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1975 | chr15 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878244 | A | AATATATA others(780): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 208 | 0.0048 | 787 | c.192 others(806): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(780): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 336 | 0.0030 | 787 | c.348 others(804): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158916214 | C | CGACACGC others(780): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0019 | a0002c0019t0015 | a0002c0019t0015g0043 | 1 | 274 | 0.0037 | 787 | c.179 others(806): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(780): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02083.hp2 HG03491.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0011a0001c0001t0031a0003c0009t0002 | a0001c0001t0011g0037a0001c0001t0011g0053a0001c0001t0031g0005others(1): Show | 4 | 138 | 0.0290 | 787 | c.123 others(808): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HCN2_chr19_584881_622159 | 602167 | T | TCTCTCCT others(780): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 408 | 0.0025 | 787 | c.633 others(804): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(780): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 376 | 0.0027 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(780): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0333 | 1 | 376 | 0.0027 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(780): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0139 | 1 | 376 | 0.0027 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(780): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0116 | 1 | 376 | 0.0027 | 787 | c.666 others(804): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322391 | A | ATATATGC others(780): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0209 | 1 | 323 | 0.0031 | 787 | c.-26 others(798): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2578 | chr21 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(780): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 312 | 0.0032 | 787 | c.-41 others(802): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCC others(780): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 312 | 0.0032 | 787 | c.-41 others(802): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(780): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 386 | 0.0026 | 787 | c.-46 others(798): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(780): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20905.hp2 |
a0001a0037 | a0001c0015a0037c0044 | a0001c0015t0001a0037c0044t0001 | a0001c0015t0001g0166a0037c0044t0001g0167 | 2 | 186 | 0.0108 | 787 | c.956 others(804): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(780): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 260 | 0.0039 | 787 | c.125 others(804): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(780): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0235 | 1 | 290 | 0.0035 | 787 | c.129 others(806): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(780): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0098others(4): Show | 7 | 228 | 0.0307 | 787 | c.337 others(806): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGAGGG others(780): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 163 | 0.0061 | 787 | c.525 others(804): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(780): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0229 | 1 | 278 | 0.0036 | 787 | c.115 others(804): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 272 | 0.0037 | 787 | c.250 others(802): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910132 | C | CGCCACCC others(780): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 292 | 0.0034 | 787 | c.471 others(802): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(780): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0153 | 1 | 228 | 0.0044 | 787 | c.-38 others(806): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01106.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0235a0001c0003t0003g0209a0001c0003t0003g0215others(3): Show | 6 | 250 | 0.0240 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01069.hp2 others(14): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(13): Show | 17 | 250 | 0.0680 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(780): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18956.hp2 |
a0001 | a0001c0003a0001c0020 | a0001c0003t0001a0001c0020t0003 | a0001c0003t0001g0116a0001c0020t0003g0178 | 2 | 250 | 0.0080 | 787 | c.328 others(806): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACGCT others(780): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193a0001c0001t0003g0257 | 2 | 338 | 0.0059 | 787 | c.143 others(804): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679076 | A | ATTTATTT others(780): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 308 | 0.0033 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(780): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18953.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0023g0167 | 3 | 308 | 0.0097 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(780): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 308 | 0.0033 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 308 | 0.0033 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 308 | 0.0033 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934437 | G | GGCTGCGT others(780): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 434 | 0.0023 | 787 | c.843 others(804): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934437 | G | GGCTGCGT others(780): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0193 | 1 | 434 | 0.0023 | 787 | c.843 others(804): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(780): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 324 | 0.0031 | 787 | c.115 others(804): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(780): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 350 | 0.0029 | 787 | c.624 others(802): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197196 | T | TCTATCCA others(780): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0032 | 1 | 420 | 0.0024 | 787 | c.107 others(804): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377320 | C | CCCCACCC others(780): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 | 1 | 370 | 0.0027 | 787 | c.-13 others(798): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1295 | chr19 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 250 | 0.0040 | 787 | c.82+ others(802): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |