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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(877): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 | 1 | 27 | 0.0370 | 884 | c.94+ others(899): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(877): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0028 | a0001c0001t0001g0209 a0002c0002t0004g0212 a0002c0002t0004g0213 others(1): Show |
4 | 115 | 0.0348 | 884 | c.217 others(903): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(877): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0103 | 1 | 112 | 0.0089 | 884 | c.217 others(903): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140344 | G | GGCCAGCC others(877): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0008 | 1 | 154 | 0.0065 | 884 | c.217 others(903): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140344 | G | GGCCAGCC others(877): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0057 | 1 | 154 | 0.0065 | 884 | c.217 others(903): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(877): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 884 | c.*36 others(895): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(877): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 299 | 0.0033 | 884 | c.*36 others(895): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802807 | T | TGGGGGCC others(877): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 | 1 | 375 | 0.0027 | 884 | c.666 others(897): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(877): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 | 1 | 243 | 0.0041 | 884 | c.666 others(899): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(877): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 16 | 0.0625 | 884 | c.164 others(903): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(877): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0211 | 1 | 2 | 0.5000 | 884 | c.162 others(905): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(877): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0278 |
2 | 75 | 0.0267 | 884 | c.937 others(899): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(877): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0027 | 1 | 196 | 0.0051 | 884 | c.181 others(903): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(877): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0266 |
2 | 349 | 0.0057 | 884 | c.51+ others(899): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(877): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 5 | 208 | 0.0240 | 884 | c.-38 others(895): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(877): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 204 | 0.0049 | 884 | c.-38 others(895): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGGTGAC others(877): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0319 | 1 | 347 | 0.0029 | 884 | c.241 others(903): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(877): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 302 | 0.0033 | 884 | c.513 others(901): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(877): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0059 | 1 | 83 | 0.0120 | 884 | c.724 others(903): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369638 | T | TTTCTTCA others(877): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0130 | 1 | 356 | 0.0028 | 884 | c.346 others(901): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377749 | C | CCTGGGAA others(877): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 333 | 0.0030 | 884 | c.215 others(901): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3218268 | C | CCAGGTGC others(877): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 248 | 0.0040 | 884 | c.417 others(901): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321652 | G | GCCTGTGG others(877): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0100 | 1 | 151 | 0.0066 | 884 | c.-28 others(895): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2857 | chrX | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(877): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 13 | 0.0769 | 884 | c.-79 others(893): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(877): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0186 | 1 | 152 | 0.0066 | 884 | c.*80 others(893): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(877): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 5 | 0.2000 | 884 | c.-41 others(899): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(877): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0016 | 1 | 16 | 0.0625 | 884 | c.56- others(901): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(877): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 207 | 0.0048 | 884 | c.126 others(901): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(877): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0262 | 1 | 207 | 0.0048 | 884 | c.126 others(901): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(877): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0065 a0001c0001t0002g0056 a0001c0001t0002g0101 others(7): Show |
10 | 144 | 0.0694 | 884 | c.-46 others(905): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(877): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 216 | 0.0046 | 884 | c.129 others(901): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(877): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03098.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0004a0007c0007t0003 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0004g0082 others(3): Show |
6 | 52 | 0.1154 | 884 | c.483 others(899): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCCTCCTC others(877): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0076 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0136 | 1 | 125 | 0.0080 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(877): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0039 | 1 | 8 | 0.1250 | 884 | c.250 others(899): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(877): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 139 | 0.0072 | 884 | c.141 others(901): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535823 | G | GGGTGGGT others(877): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 278 | 0.0036 | 884 | c.140 others(901): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664510 | T | TCTCCTCT others(877): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 324 | 0.0031 | 884 | c.433 others(901): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841612 | A | AGCATCTC others(877): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 140 | 0.0071 | 884 | c.361 others(903): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(877): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 237 | 0.0042 | 884 | c.274 others(901): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 118 | 0.0085 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 118 | 0.0085 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 118 | 0.0085 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(877): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
7 | 8 | 0.8750 | 884 | c.273 others(899): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(877): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0025 | 1 | 338 | 0.0030 | 884 | c.*16 others(895): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar |