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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDHR2_chr5_176544342_176600824 | 176591765 | G | GGTGTTGA others(1921): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0290 | 1 | 327 | 0.0031 | 1928 | c.373 others(1945): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(1921): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0165 | 1 | 171 | 0.0058 | 1928 | c.85- others(1945): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958273 | C | CCACCACC others(1921): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0035 | 1 | 228 | 0.0044 | 1928 | c.724 others(1947): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(1921): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 259 | 0.0039 | 1928 | c.129 others(1947): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1921): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 10 | 0.1000 | 1928 | c.-79 others(1937): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1921): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(63): Show |
189 | 198 | 0.9545 | 1928 | c.-79 others(1937): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1921): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0035 |
3 | 12 | 0.2500 | 1928 | c.-79 others(1937): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1921): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0061 |
3 | 12 | 0.2500 | 1928 | c.-79 others(1937): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1921): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 1928 | c.-79 others(1937): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1921): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 210 | 0.0048 | 1928 | c.*22 others(1939): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130393038 | T | TGTCCGTC others(1921): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0165 | 1 | 171 | 0.0058 | 1928 | c.*43 others(1939): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3094 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130393221 | T | TGTGTCCG others(1921): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0129 | 1 | 161 | 0.0062 | 1928 | c.*41 others(1939): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2911 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 314954 | T | TCCACCTC others(1921): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0030 | a0001c0003t0001g0068 a0001c0003t0030g0122 |
2 | 117 | 0.0171 | 1928 | c.351 others(1945): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
CIB2_chr15_78099606_78136445 | 78134613 | G | GCCCCCCC others(1922): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 388 | 0.0026 | 1929 | c.-33 others(1940): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 3169 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1922): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 69 | 0.0145 | 1929 | c.*52 others(1940): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241357 | C | CGGGGCCC others(1922): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0172 | 1 | 172 | 0.0058 | 1929 | c.107 others(1948): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1922): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(169): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(36): Show |
172 | 181 | 0.9503 | 1929 | c.-79 others(1938): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1922): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0077 |
4 | 13 | 0.3077 | 1929 | c.-79 others(1938): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1922): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 11 | 0.1818 | 1929 | c.-79 others(1938): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178228 | C | CCCATCCA others(1922): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0054 | a0005c0054t0001 | a0005c0054t0001g0140 | 1 | 344 | 0.0029 | 1929 | c.228 others(1946): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1922): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 151 | 0.0066 | 1929 | c.361 others(1948): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1922): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0279 | 1 | 316 | 0.0032 | 1929 | c.-49 others(1940): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1922): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0278 a0002c0004t0003g0280 |
2 | 317 | 0.0063 | 1929 | c.-49 others(1940): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1922): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0155 | 1 | 82 | 0.0122 | 1929 | c.147 others(1946): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492516 | C | CTTCCCGG others(1922): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0108 | 1 | 203 | 0.0049 | 1929 | c.126 others(1948): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483442 | C | CCCTCCCT others(1922): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 54 | 0.0185 | 1929 | c.-31 others(1946): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1922): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 35 | 0.0286 | 1929 | c.-28 others(1948): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418998 | C | CCCTCCCT others(1923): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0087 | 1 | 259 | 0.0039 | 1930 | c.106 others(1949): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251125 | A | ACCCCCAC others(1923): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 92 | 0.0109 | 1930 | c.207 others(1949): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241357 | C | CGGGGCCC others(1923): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0173 | 1 | 172 | 0.0058 | 1930 | c.107 others(1949): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1923): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 32 | 0.0313 | 1930 | c.218 others(1945): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1923): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 151 | 0.0066 | 1930 | c.361 others(1949): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1923): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0016 | a0001c0001t0002g0016 a0001c0001t0002g0104 a0001c0001t0005g0215 others(1): Show |
4 | 235 | 0.0170 | 1930 | c.754 others(1947): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1923): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 9 | 0.2222 | 1930 | c.-20 others(1941): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1923): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 8 | 0.1250 | 1930 | c.-20 others(1941): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197677690 | C | CCAGACTG others(1923): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 184 | 0.0054 | 1930 | c.243 others(1948): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 16/19 | chr3 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453162 | A | ATATATAT others(1923): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0108 | 1 | 183 | 0.0055 | 1930 | c.-50 others(1941): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4976 | chr12 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1923): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 51 | 0.0392 | 1930 | c.*24 others(1941): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(1923): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0031 | a0031c0047 | a0031c0047t0007 | a0031c0047t0007g0151 | 1 | 222 | 0.0045 | 1930 | c.268 others(1949): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(1924): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0141 | 1 | 225 | 0.0044 | 1931 | c.373 others(1948): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1924): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 2 | 0.5000 | 1931 | c.44- others(1944): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(1924): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 253 | 0.0040 | 1931 | c.*51 others(1942): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502043 | G | GCCCCCCA others(1924): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 288 | 0.0035 | 1931 | c.218 others(1948): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1924): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 8 | 0.1250 | 1931 | c.-20 others(1942): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTG others(1924): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0118 | 1 | 269 | 0.0037 | 1931 | c.218 others(1946): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(1924): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 72 | 0.0139 | 1931 | c.427 others(1950): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932463 | G | GGAAAGAA others(1925): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0157 | 1 | 160 | 0.0063 | 1932 | c.23- others(1947): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1925): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 50 | 0.0200 | 1932 | c.147 others(1949): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1925): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0014 | 1 | 223 | 0.0045 | 1932 | c.*36 others(1943): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647656 | C | TGCGGGGT others(1925): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 215 | 0.0047 | 1932 | c.253 others(1947): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar |