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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(887): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0141 | 1 | 33 | 0.0303 | 894 | c.539 others(907): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(887): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 18 | 0.0556 | 894 | c.539 others(907): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(887): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03098.hp1 others(1): Show |
a0001a0022 | a0001c0026a0001c0141a0001c0157others(1): Show | a0001c0026t0007a0001c0141t0007a0001c0157t0005others(1): Show | a0001c0026t0007g0307 a0001c0141t0007g0310 a0001c0157t0005g0309 others(1): Show |
4 | 77 | 0.0519 | 894 | c.-48 others(911): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(887): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 296 | 0.0034 | 894 | c.*36 others(905): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(887): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01175.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0095 |
4 | 257 | 0.0156 | 894 | c.109 others(909): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882338 | C | CGGGAGAA others(887): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0102 | 1 | 209 | 0.0048 | 894 | c.303 others(913): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(887): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0044 | 1 | 13 | 0.0769 | 894 | c.109 others(913): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(887): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 15 | 0.0667 | 894 | c.106 others(913): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(887): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005 | a0002c0001t0002g0013 a0002c0001t0005g0029 |
2 | 16 | 0.1250 | 894 | c.106 others(913): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(887): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 96 | 0.0104 | 894 | c.119 others(913): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(887): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 96 | 0.0104 | 894 | c.119 others(913): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGGGAGA others(887): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 234 | 0.0043 | 894 | c.-40 others(905): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243180 | C | CACACACA others(887): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0036 | 1 | 177 | 0.0056 | 894 | c.107 others(913): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321751 | C | CAAAAAAA others(887): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0093 | 1 | 134 | 0.0075 | 894 | c.-29 others(905): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2956 | chrX | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(887): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 198 | 0.0051 | 894 | c.804 others(911): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(887): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 5 | 0.2000 | 894 | c.-41 others(909): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(887): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 100 | 0.0100 | 894 | c.56- others(911): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(887): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0267 | 1 | 207 | 0.0048 | 894 | c.126 others(911): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(887): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 80 | 0.0125 | 894 | c.125 others(911): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(887): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | 126 | 0.0159 | 894 | c.-49 others(905): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(887): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 8 | 0.1250 | 894 | c.250 others(909): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52523965 | G | GACAGTGC others(887): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18612.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0109 a0002c0002t0006g0132 |
2 | 243 | 0.0082 | 894 | c.27+ others(909): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528378 | A | ATGGGCAG others(887): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 270 | 0.0037 | 894 | c.141 others(911): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841651 | C | CGCATCTC others(887): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0144 | 1 | 230 | 0.0043 | 894 | c.361 others(913): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(887): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0044 a0001c0001t0002g0065 a0001c0001t0010g0064 |
3 | 4 | 0.7500 | 894 | c.734 others(911): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(887): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(118): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0004t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(112): Show |
121 | 122 | 0.9918 | 894 | c.734 others(911): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354057 | T | TATCAAGA others(887): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0053 | 1 | 335 | 0.0030 | 894 | c.176 others(913): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(887): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0014a0024 | a0014c0083a0014c0084a0014c0085others(1): Show | a0014c0083t0001a0014c0084t0001a0014c0085t0001others(1): Show | a0014c0083t0001g0288 a0014c0084t0001g0290 a0014c0085t0001g0291 others(1): Show |
4 | 27 | 0.1481 | 894 | c.371 others(911): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(887): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0016 | a0016c0048 | a0016c0048t0001 | a0016c0048t0001g0013 | 1 | 133 | 0.0075 | 894 | c.147 others(913): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(887): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 19 | 0.0526 | 894 | c.24+ others(911): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(887): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0110 | 1 | 119 | 0.0084 | 894 | c.389 others(915): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(887): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0149 | 1 | 119 | 0.0084 | 894 | c.389 others(915): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322945 | T | CATTATAT others(887): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 156 | 0.0064 | 894 | c.389 others(915): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322945 | T | CATTATAT others(887): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 156 | 0.0064 | 894 | c.389 others(915): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(887): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0280 | 1 | 42 | 0.0238 | 894 | c.916 others(911): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284172 | G | GGTGTTGG others(887): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 286 | 0.0035 | 894 | c.464 others(907): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(887): Show |
intron_variant | MODIFIER | HG02040.hp2 HG04184.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0001t0018a0001c0032t0001 | a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0018g0096 others(1): Show |
4 | 39 | 0.1026 | 894 | c.125 others(911): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(887): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 36 | 0.0278 | 894 | c.125 others(911): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(887): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 36 | 0.0278 | 894 | c.125 others(911): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(887): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 36 | 0.0278 | 894 | c.125 others(911): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(887): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 36 | 0.0278 | 894 | c.125 others(911): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642167 | G | GCGGGGGT others(887): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0157 | 1 | 415 | 0.0024 | 894 | c.*65 others(905): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4447 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(887): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 31 | 0.0323 | 894 | c.638 others(909): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(887): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 31 | 0.0323 | 894 | c.638 others(909): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCACCC others(887): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0117 | 1 | 325 | 0.0031 | 894 | c.-91 others(903): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748026 | G | GGTAGAAG others(887): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0242 | 1 | 274 | 0.0036 | 894 | c.189 others(909): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418444 | C | CGTTTCCT others(887): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0082 | 1 | 46 | 0.0217 | 894 | c.215 others(911): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870175 | C | CCCCCACA others(887): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 325 | 0.0031 | 894 | c.*35 others(913): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(887): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 2 | 0.5000 | 894 | c.*53 others(905): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGGGAGA others(887): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 221 | 0.0045 | 894 | c.375 others(907): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar |