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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2094): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0122 | 1 | 224 | 0.0045 | 2101 | c.*39 others(2112): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2094): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 8 | 0.1250 | 2101 | c.-20 others(2112): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(2095): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0008 | 1 | 72 | 0.0139 | 2102 | c.273 others(2119): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2095): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0037 | a0037c0040 | a0037c0040t0010 | a0037c0040t0010g0068 | 1 | 13 | 0.0769 | 2102 | c.354 others(2121): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2095): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0060 | a0060c0035 | a0060c0035t0002 | a0060c0035t0002g0148 | 1 | 97 | 0.0103 | 2102 | c.101 others(2121): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716132 | T | TTGGTGTC others(2095): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 111 | 0.0090 | 2102 | c.86- others(2115): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679943 | T | TCCTCCTC others(2095): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0065 | 1 | 67 | 0.0149 | 2102 | c.150 others(2121): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(2095): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 124 | 0.0081 | 2102 | c.*65 others(2113): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
NPFFR2_chr4_72027000_72153305 | 72049739 | A | ATTTTGGT others(2095): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 341 | 0.0029 | 2102 | c.-8+ others(2119): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2095): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 28 | 0.0357 | 2102 | c.-50 others(2113): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2095): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 35 | 0.0286 | 2102 | c.-28 others(2121): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687440 | A | ACCCCCGT others(2096): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0057 | 1 | 220 | 0.0045 | 2103 | c.-18 others(2114): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1595 | chr8 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2096): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0040 | 1 | 2 | 0.5000 | 2103 | c.126 others(2120): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2096): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 4 | 0.2500 | 2103 | c.972 others(2116): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344551 | C | CGTGAGAG others(2096): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0022 | 1 | 233 | 0.0043 | 2103 | c.*70 others(2114): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4957 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344551 | C | CGTGAGAG others(2096): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 217 | 0.0046 | 2103 | c.4-1 others(2116): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803223 | C | CCCAGGGC others(2097): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 355 | 0.0028 | 2104 | c.666 others(2119): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2097): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 52 | 0.0192 | 2104 | c.56- others(2117): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2097): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 7 | 0.1429 | 2104 | c.*22 others(2115): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2097): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 252 | 0.0040 | 2104 | c.58- others(2121): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2097): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 28 | 0.0357 | 2104 | c.-50 others(2115): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2098): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0147 | 1 | 76 | 0.0132 | 2105 | c.955 others(2122): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(2098): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 | 1 | 192 | 0.0052 | 2105 | c.105 others(2122): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514126 | C | CCCTCCTT others(2098): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0026 | a0026c0043 | a0026c0043t0001 | a0026c0043t0001g0225 | 1 | 247 | 0.0040 | 2105 | c.-84 others(2122): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2098): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 249 | 0.0040 | 2105 | c.-11 others(2116): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535464 | C | CGGGGGAG others(2098): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0010 | 1 | 267 | 0.0037 | 2105 | c.140 others(2122): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2098): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 8 | 0.1250 | 2105 | c.-20 others(2116): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2098): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2105 | c.*44 others(2116): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2098): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2105 | c.*44 others(2116): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2098): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 HG03654.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 223 | 0.0135 | 2105 | c.*44 others(2116): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223363 | C | CTGCTGCT others(2098): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0008 | a0008c0031 | a0008c0031t0001 | a0008c0031t0001g0117 | 1 | 188 | 0.0053 | 2105 | c.719 others(2124): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311194 | T | TCATCATA others(2098): Show |
intron_variant | MODIFIER | NA18972.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 315 | 0.0063 | 2105 | c.327 others(2122): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(2099): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 319 | 0.0031 | 2106 | c.181 others(2123): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2099): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 227 | 0.0044 | 2106 | c.-25 others(2123): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2099): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0004 | a0004c0028 | a0004c0028t0002 | a0004c0028t0002g0064 | 1 | 95 | 0.0105 | 2106 | c.*11 others(2127): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859601 | C | CGTGGTGT others(2099): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0245 | 1 | 271 | 0.0037 | 2106 | c.153 others(2125): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364448 | C | CCCGCGCT others(2099): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 287 | 0.0035 | 2106 | c.129 others(2123): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877054 | G | GGGAGGTT others(2099): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0045 | a0001c0045t0001 | a0001c0045t0001g0173 | 1 | 235 | 0.0043 | 2106 | c.224 others(2125): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(2099): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0018 | a0018c0051 | a0018c0051t0003 | a0018c0051t0003g0096 | 1 | 82 | 0.0122 | 2106 | c.147 others(2123): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(2099): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0148 | 1 | 263 | 0.0038 | 2106 | c.715 others(2123): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(2099): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 263 | 0.0038 | 2106 | c.715 others(2123): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2099): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 218 | 0.0046 | 2106 | c.*44 others(2117): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0084 | 1 | 4 | 0.2500 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0004 | 1 | 4 | 0.2500 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(22): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0006others(15): Show | a0001c0003t0014a0001c0004t0001a0001c0004t0014others(20): Show | a0001c0003t0014g0105 a0001c0004t0001g0152 a0001c0004t0014g0101 others(22): Show |
25 | 28 | 0.8929 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0025 | a0001c0025t0052 | a0001c0025t0052g0181 | 1 | 4 | 0.2500 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(2099): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 NA18943.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0304 |
3 | 251 | 0.0120 | 2106 | c.161 others(2125): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802884 | C | CCCAAGGC others(2100): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0088 | 1 | 382 | 0.0026 | 2107 | c.666 others(2122): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2100): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 234 | 0.0043 | 2107 | c.157 others(2124): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241927 | A | ACCACACC others(2100): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0122 |
2 | 85 | 0.0235 | 2107 | c.107 others(2126): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar |