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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2067): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0173 | 1 | 76 | 0.0132 | 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 | a0001c0001t0001g0166 | 1 | 2 | 0.5000 | 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 | 236 | 0.0042 | 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 | a0001c0002t0001g0066 | 1 | 152 | 0.0066 | 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 | a0001c0002t0002a0001c0002t0016a0001c0002t0049others(4): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0010 others(32): Show |
47 | 112 | 0.4196 | 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 | a0001c0001t0001a0001c0001t0086 | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0148 others(3): Show |
9 | 74 | 0.1216 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0239 others(4): Show |
7 | 72 | 0.0972 | 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 | a0001c0002t0032 | a0001c0002t0032g0073 | 1 | 66 | 0.0152 | 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 | a0001c0001t0001g0016 | 1 | 66 | 0.0152 | 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 | a0001c0001t0003a0001c0001t0051a0001c0002t0002 | a0001c0001t0003g0050 a0001c0001t0051g0174 a0001c0002t0002g0110 |
3 | 68 | 0.0441 | 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 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 others(37): Show |
43 | 108 | 0.3981 | 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 | a0001c0001t0006g0052 | 1 | 66 | 0.0152 | 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 | a0001c0002t0014 | a0001c0002t0014g0144 | 1 | 66 | 0.0152 | 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 | a0001c0001t0015 | a0001c0001t0015g0062 | 1 | 66 | 0.0152 | 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 | 66 | 0.0152 | 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 | a0003c0003t0011 | a0003c0003t0011g0062 | 1 | 95 | 0.0105 | 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 | a0001c0001t0001 | a0001c0001t0001g0006 | 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 | a0001c0001t0047a0001c0001t0058 | a0001c0001t0047g0069 a0001c0001t0058g0100 |
2 | 36 | 0.0556 | 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 | a0001c0004t0001g0106 | 1 | 5 | 0.2000 | 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(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0048 others(7): Show |
10 | 66 | 0.1515 | 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 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 57 | 0.0175 | 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 |
a0001a0008 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0167 others(17): Show |
20 | 63 | 0.3175 | 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 | 44 | 0.0227 | 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 | a0002c0002t0002g0247 | 1 | 76 | 0.0132 | 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 | a0003c0003t0006g0035 | 1 | 30 | 0.0333 | 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 | 83 | 0.0120 | 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 | 117 | 0.0085 | 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 | a0001c0002t0001g0166 | 1 | 75 | 0.0133 | 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 | a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0084 others(1): Show |
4 | 69 | 0.0580 | 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 | a0001c0002t0002g0105 | 1 | 66 | 0.0152 | 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 | a0001c0001t0001g0153 | 1 | 66 | 0.0152 | 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 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0178 others(6): Show |
9 | 74 | 0.1216 | 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 | a0001c0001t0008 | a0001c0001t0008g0015 a0001c0001t0008g0103 |
2 | 5 | 0.4000 | 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 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 4 | 0.2500 | 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 | a0001c0004t0009 | a0001c0004t0009g0011 | 1 | 276 | 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 | a0001c0004t0005a0001c0004t0009 | a0001c0004t0005g0141 a0001c0004t0009g0140 |
2 | 277 | 0.0072 | 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 | 15 | 0.0667 | 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 | 15 | 0.0667 | 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 | a0002c0002t0001g0222 | 1 | 65 | 0.0154 | 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 | 20 | 0.0500 | 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 | a0001c0001t0001g0116 | 1 | 340 | 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 | 44 | 0.0227 | 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 | 44 | 0.0227 | 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 | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 44 | 0.0227 | 2076 | c.108 others(2093): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2069): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0165 | 1 | 76 | 0.0132 | 2076 | c.955 others(2093): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2069): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 4 | 0.2500 | 2076 | c.972 others(2089): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2069): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 a0001c0001t0003g0046 |
2 | 67 | 0.0299 | 2076 | c.*68 others(2087): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2069): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0161 | 1 | 66 | 0.0152 | 2076 | c.*68 others(2087): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(2069): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 291 | 0.0034 | 2076 | c.-25 others(2093): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(2069): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 287 | 0.0035 | 2076 | c.-25 others(2093): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar |