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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0084 | 1 | 425 | 0.0024 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 425 | 0.0024 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2066): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 314 | 0.0032 | 2073 | c.-25 others(2090): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(2066): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0190 | 1 | 394 | 0.0025 | 2073 | c.-8+ others(2086): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2066): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 72 | 0.0139 | 2073 | c.322 others(2092): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2067): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 218 | 0.0046 | 2074 | c.108 others(2091): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89398296 | G | GAGGCTGA others(2067): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0270 | 1 | 310 | 0.0032 | 2074 | c.-60 others(2093): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2067): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0184 | 1 | 298 | 0.0034 | 2074 | c.955 others(2091): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2067): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 316 | 0.0032 | 2074 | c.44- others(2087): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170377003 | T | TGGGAGAA others(2067): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 289 | 0.0035 | 2074 | c.228 others(2095): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2067): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 289 | 0.0035 | 2074 | c.228 others(2095): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(44): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0001c0002t0021a0001c0002t0055others(4): Show | a0001c0002t0002g0004a0001c0002t0002g0005a0001c0002t0002g0008others(32): Show | 47 | 425 | 0.1106 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0090 | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0142others(3): Show | 9 | 425 | 0.0212 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0243others(4): Show | 7 | 425 | 0.0165 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0065 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 NA18942.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0057a0001c0002t0002 | a0001c0001t0003g0045a0001c0001t0057g0170a0001c0002t0002g0102 | 3 | 425 | 0.0071 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(40): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(9): Show | a0001c0001t0003g0040a0001c0001t0003g0041a0001c0001t0003g0042others(37): Show | 43 | 425 | 0.1012 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0138 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0247 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2067): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 425 | 0.0024 | 2074 | c.*68 others(2085): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2067): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0063 | 1 | 158 | 0.0063 | 2074 | c.*11 others(2095): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89398296 | G | GAGGCTGA others(2067): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0006 | 1 | 366 | 0.0027 | 2074 | c.9+1 others(2089): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2067): Show |
5_prime_UTR_variant | MODIFIER | HG03130.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0066 | a0001c0001t0051g0068a0001c0001t0066g0096 | 2 | 488 | 0.0041 | 2074 | c.-10 others(2080): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | |||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(2067): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 376 | 0.0027 | 2074 | c.*15 others(2085): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2067): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG01934.hp1 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0042others(8): Show | 11 | 72 | 0.1528 | 2074 | c.322 others(2093): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2067): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0062 | 1 | 72 | 0.0139 | 2074 | c.322 others(2093): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2068): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01081.hp2 others(17): Show |
a0001a0012 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0146a0001c0001t0001g0159a0001c0001t0001g0167others(17): Show | 20 | 218 | 0.0917 | 2075 | c.108 others(2092): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2068): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0032 | a0002c0032t0003 | a0002c0032t0003g0099 | 1 | 218 | 0.0046 | 2075 | c.108 others(2092): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2068): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 | 1 | 298 | 0.0034 | 2075 | c.955 others(2092): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2068): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0025 | 1 | 364 | 0.0028 | 2075 | c.445 others(2090): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(2068): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 230 | 0.0044 | 2075 | c.724 others(2094): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(2068): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0085 | 1 | 148 | 0.0068 | 2075 | c.183 others(2094): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2068): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 395 | 0.0025 | 2075 | c.*69 others(2086): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2068): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01192.hp1 NA18943.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0008a0001c0002t0002g0077others(1): Show | 4 | 425 | 0.0094 | 2075 | c.*68 others(2086): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2068): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 425 | 0.0024 | 2075 | c.*68 others(2086): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2068): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 425 | 0.0024 | 2075 | c.*68 others(2086): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2068): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0045a0001c0001t0003g0046a0001c0001t0003g0174others(6): Show | 9 | 425 | 0.0212 | 2075 | c.*68 others(2086): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2068): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015a0001c0001t0007g0103 | 2 | 116 | 0.0172 | 2075 | c.522 others(2092): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2068): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 116 | 0.0086 | 2075 | c.522 others(2092): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MANBA_chr4_102625770_102765968 | 102678447 | T | TGAAAAGA others(2068): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0011 | 1 | 280 | 0.0036 | 2075 | c.961 others(2092): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 7/16 | chr4 | TogoVar | ||||||
MANBA_chr4_102625770_102765968 | 102678447 | T | TGAAAAGA others(2068): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0020 | a0001c0004t0010g0140a0001c0004t0020g0141 | 2 | 280 | 0.0071 | 2075 | c.961 others(2092): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 7/16 | chr4 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2068): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0065 | 1 | 68 | 0.0147 | 2075 | c.61+ others(2094): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2068): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0062 | 1 | 68 | 0.0147 | 2075 | c.61+ others(2094): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2068): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 367 | 0.0027 | 2075 | c.4-1 others(2088): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGGA others(2068): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056 | 1 | 133 | 0.0075 | 2075 | c.351 others(2094): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312409 | C | CTAGCCTC others(2068): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 344 | 0.0029 | 2075 | c.327 others(2092): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2069): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 218 | 0.0046 | 2076 | c.108 others(2093): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2069): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 218 | 0.0046 | 2076 | c.108 others(2093): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar |