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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(887): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 260 | 0.0039 | 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 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | 318 | 0.0063 | 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 | a0001c0001t0025 | a0001c0001t0025g0111 | 1 | 272 | 0.0037 | 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 | a0002c0002t0002g0108a0002c0002t0006g0131 | 2 | 302 | 0.0066 | 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 | 324 | 0.0031 | 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 | 242 | 0.0041 | 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 | a0001c0001t0002g0044a0001c0001t0002g0070a0001c0001t0010g0069 | 3 | 350 | 0.0086 | 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 | a0001c0001a0001c0004a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0004t0002others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(112): Show | 121 | 350 | 0.3457 | 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 | a0003c0003t0002g0052 | 1 | 346 | 0.0029 | 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 |
a0014a0021 | a0014c0084a0014c0085a0014c0086others(1): Show | a0014c0084t0001a0014c0085t0001a0014c0086t0001others(1): Show | a0014c0084t0001g0288a0014c0085t0001g0290a0014c0086t0001g0291others(1): Show | 4 | 308 | 0.0130 | 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 | a0025 | a0025c0049 | a0025c0049t0001 | a0025c0049t0001g0013 | 1 | 188 | 0.0053 | 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 | a0001c0001t0003g0033 | 1 | 220 | 0.0046 | 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 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0110 | 1 | 160 | 0.0063 | 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 | 160 | 0.0063 | 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 | a0001c0001t0004g0124 | 1 | 160 | 0.0063 | 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 | 160 | 0.0063 | 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 | a0002c0010t0003g0282 | 1 | 314 | 0.0032 | 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 | a0001c0001t0001g0222 | 1 | 290 | 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 | a0001c0001t0001g0095a0001c0001t0001g0109a0001c0001t0018g0096others(1): Show | 4 | 118 | 0.0339 | 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 | 118 | 0.0085 | 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 | a0001c0001t0001g0113 | 1 | 118 | 0.0085 | 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 | 118 | 0.0085 | 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 | 118 | 0.0085 | 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 | a0001c0002t0029 | a0001c0002t0029g0157 | 1 | 422 | 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 | 112 | 0.0089 | 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 | 112 | 0.0089 | 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 | a0001c0001t0037 | a0001c0001t0037g0108 | 1 | 370 | 0.0027 | 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 | a0001c0001t0028 | a0001c0001t0028g0240 | 1 | 314 | 0.0032 | 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 | a0005c0010t0002g0083 | 1 | 114 | 0.0088 | 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 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 338 | 0.0030 | 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 | a0001c0001t0002g0144 | 1 | 202 | 0.0050 | 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 | a0001c0001t0001g0090 | 1 | 328 | 0.0031 | 894 | c.375 others(907): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
XKR6_chr8_10891045_11206833 | 11026475 | A | AGCCTACT others(887): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0036a0001c0001t0002g0135a0001c0001t0002g0162others(14): Show | 17 | 178 | 0.0955 | 894 | c.765 others(915): Show |
XKR6 | ENSG00000171044.11 | transcript | ENST00000416569.3 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(888): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 246 | 0.0041 | 895 | c.298 others(912): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825127 | C | CCCTGCAC others(888): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0098 | a0010c0098t0003 | a0010c0098t0003g0203 | 1 | 363 | 0.0028 | 895 | c.-48 others(912): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1825127 | C | CCCTGCAC others(888): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0020 | a0001c0020t0015 | a0001c0020t0015g0204 | 1 | 363 | 0.0028 | 895 | c.-48 others(912): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804313 | C | CCCTCCTT others(888): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195 | 1 | 254 | 0.0039 | 895 | c.163 others(910): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(888): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 895 | c.-22 others(906): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(888): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 895 | c.-22 others(906): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(888): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 354 | 0.0028 | 895 | c.*69 others(906): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(888): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0143 | 1 | 216 | 0.0046 | 895 | c.923 others(914): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTATAAC others(888): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0198 | 1 | 230 | 0.0044 | 895 | c.724 others(914): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(888): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | 230 | 0.0087 | 895 | c.724 others(914): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(888): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 384 | 0.0026 | 895 | c.215 others(912): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(888): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 418 | 0.0024 | 895 | c.119 others(914): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(888): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0062 | 1 | 418 | 0.0024 | 895 | c.119 others(914): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(888): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0001g0089others(16): Show | 19 | 418 | 0.0455 | 895 | c.119 others(914): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(888): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0069a0001c0001t0013g0370 | 2 | 418 | 0.0048 | 895 | c.119 others(914): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551561 | G | GGAGGGGA others(888): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 46 | 0.0217 | 895 | c.-17 others(914): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997188 | G | GCGGGGGA others(888): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 375 | 0.0027 | 895 | c.-22 others(906): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 482 | chr6 | TogoVar |