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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM72B_chr1_121162646_121189340 | 121180980 | TGGTTTTT others(52): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 380 | 0.0026 | -59 | c.230 others(74): Show |
FAM72B | ENSG00000188610.12 | transcript | ENST00000369390.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186680490 | CCTCTGGA others(52): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 338 | 0.0030 | -59 | c.326 others(80): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
FBXL7_chr5_15495180_15944793 | 15748023 | AGGAGTGA others(52): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00738.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(36): Show |
39 | 122 | 0.3197 | -59 | c.127 others(80): Show |
FBXL7 | ENSG00000183580.10 | transcript | ENST00000504595.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FGF7_chr15_49418242_49493775 | 49489803 | TTATATAT others(52): Show |
T | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02145.hp1 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0002g0039 a0001c0001t0002g0085 a0001c0001t0002g0208 others(7): Show |
10 | 358 | 0.0279 | -59 | c.*53 others(70): Show |
FGF7 | ENSG00000140285.12 | transcript | ENST00000267843.9 | protein_coding | 1029 | chr15 | TogoVar | |||||||
FGFRL1_chr4_1006626_1031898 | 1020759 | GTGGGGTG others(52): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0115 | 1 | 414 | 0.0024 | -59 | c.80- others(74): Show |
FGFRL1 | ENSG00000127418.15 | transcript | ENST00000510644.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36763522 | TATATAAT others(52): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0156 | 1 | 168 | 0.0060 | -59 | c.462 others(78): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36763549 | TATATAAT others(52): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0017 | a0017c0034 | a0017c0034t0001 | a0017c0034t0001g0149 | 1 | 168 | 0.0060 | -59 | c.462 others(78): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FIRRM_chr1_169790040_169859080 | 169850986 | TTTTTTTT others(52): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0020a0003c0004t0003 | a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 others(9): Show |
12 | 420 | 0.0286 | -59 | c.224 others(76): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FNBP1_chr9_129882187_130048189 | 129908168 | GGGGTCTC others(52): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03471.hp1 HG03491.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0034others(1): Show | a0001c0001t0001g0062 a0002c0002t0001g0017 a0002c0002t0001g0195 others(2): Show |
5 | 212 | 0.0236 | -59 | c.129 others(76): Show |
FNBP1 | ENSG00000187239.19 | transcript | ENST00000446176.7 | protein_coding | 12/16 | chr9 | TogoVar | |||||||
FREM2_chr13_38682077_38892131 | 38813506 | CTCTCTCT others(52): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0077 | a0002c0077t0009 | a0002c0077t0009g0139 | 1 | 262 | 0.0038 | -59 | c.601 others(80): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FRMD3_chr9_83239622_83543401 | 83536613 | TTATTAAG others(52): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 242 | 0.0041 | -59 | c.147 others(76): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13713817 | ATAATATA others(52): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0006a0001c0005t0003a0002c0004t0010 | a0001c0001t0006g0088 a0001c0005t0003g0003 a0002c0004t0010g0053 |
3 | 134 | 0.0224 | -59 | c.760 others(76): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127836 | TTCTTCTT others(52): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG03017.hp1 NA18747.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0309 a0001c0001t0001g0334 a0001c0001t0001g0347 others(1): Show |
4 | 350 | 0.0114 | -59 | c.152 others(78): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27306973 | ATATATAA others(52): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0019a0001c0005t0005 | a0001c0003t0019g0064 a0001c0005t0005g0045 |
2 | 92 | 0.0217 | -59 | c.271 others(78): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81389808 | ATGCCAGT others(52): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0104 | 1 | 384 | 0.0026 | -59 | c.*12 others(72): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 11/11 | 12214 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GCH1_chr14_54837017_54907826 | 54880633 | TATATATA others(52): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0210 | 1 | 346 | 0.0029 | -59 | c.344 others(78): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605035 | TAAAATAT others(52): Show |
T | intron_variant | MODIFIER | HG03654.hp2 HG03669.hp1 NA19010.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0291 a0002c0002t0002g0306 a0002c0002t0002g0307 others(1): Show |
4 | 426 | 0.0094 | -59 | c.-42 others(78): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579108 | TAGATAGA others(52): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 210 | 0.0048 | -59 | c.70+ others(76): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147913863 | TACAATCT others(52): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 472 | 0.0021 | -59 | c.*46 others(70): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 4595 | chr1 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83778788 | TTAGACTG others(52): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 2 | 336 | 0.0060 | -59 | c.585 others(76): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33025573 | CGGAGCAG others(52): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(183): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(183): Show |
186 | 394 | 0.4721 | -59 | c.106 others(78): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLCE_chr15_69155635_69277207 | 69240238 | CCCGCCAC others(52): Show |
C | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 342 | 0.0029 | -59 | c.-13 others(78): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2651299 | TACCTTCC others(52): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0021 | 1 | 206 | 0.0049 | -59 | c.-13 others(78): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNPAT_chr1_231236212_231282973 | 231281899 | CTAGTGGA others(52): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0218 | 1 | 360 | 0.0028 | -59 | c.*43 others(70): Show |
GNPAT | ENSG00000116906.13 | transcript | ENST00000366647.9 | protein_coding | 3927 | chr1 | TogoVar | |||||||
GPC1_chr2_240430663_240473076 | 240453305 | CCCGCTCC others(52): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01071.hp1 others(21): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0007a0007c0017others(1): Show | a0001c0002t0002a0001c0002t0015a0002c0007t0001others(2): Show | a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0023 others(19): Show |
24 | 398 | 0.0603 | -59 | c.167 others(76): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66941080 | GATTTCTA others(52): Show |
G | intron_variant | MODIFIER | HG00597.hp1 NA18612.hp2 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0214 a0001c0001t0001g0215 others(5): Show |
8 | 234 | 0.0342 | -59 | c.828 others(78): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137144312 | ATGGTGGG others(52): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(2): Show |
5 | 298 | 0.0168 | -59 | c.394 others(76): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137144825 | GGTCTAGA others(52): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03017.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0187 others(1): Show |
4 | 298 | 0.0134 | -59 | c.394 others(74): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137145491 | AGGGGTGG others(52): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0208 |
2 | 298 | 0.0067 | -59 | c.394 others(74): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137145528 | AGTGTCCC others(52): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(169): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(157): Show |
172 | 298 | 0.5772 | -59 | c.394 others(74): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2960767 | TAATATAT others(52): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0165 | 1 | 268 | 0.0037 | -59 | c.-33 others(70): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2803 | chr4 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127040021 | TGAGGAGG others(52): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01978.hp2 HG02647.hp2 others(7): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0002g0013 others(7): Show |
10 | 108 | 0.0926 | -59 | c.727 others(78): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113330770 | ACTCAGGT others(52): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01069.hp2 others(45): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0002c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0043 others(44): Show |
48 | 288 | 0.1667 | -59 | c.563 others(76): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27827891 | CATCCATC others(52): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0070 others(73): Show |
76 | 240 | 0.3167 | -59 | c.830 others(74): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27888423 | TCTTTCTT others(52): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01934.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0030a0001c0002t0001others(1): Show | a0001c0001t0003g0090 a0001c0001t0030g0034 a0001c0002t0001g0009 others(1): Show |
4 | 240 | 0.0167 | -59 | c.398 others(76): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSTA4_chr6_52972953_53000284 | 53000040 | GGCATTTT others(52): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0050 | 1 | 324 | 0.0031 | -59 | c.-48 others(70): Show |
GSTA4 | ENSG00000170899.11 | transcript | ENST00000370963.9 | protein_coding | 4757 | chr6 | TogoVar | |||||||
GTF2IRD1_chr7_74448906_74607605 | 74525493 | TGTCATCC others(52): Show |
T | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0246 | 1 | 262 | 0.0038 | -59 | c.109 others(78): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 8/26 | chr7 | TogoVar | |||||||
GTPBP4_chr10_983434_1024932 | 1011467 | GCTCTCAG others(52): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0027 a0001c0002t0017g0166 |
3 | 370 | 0.0081 | -59 | c.134 others(76): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015513 | TCTGAGCC others(52): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0302 | 1 | 370 | 0.0027 | -59 | c.160 others(76): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315815 | CACACACA others(52): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0021 | a0021c0027 | a0021c0027t0004 | a0021c0027t0004g0083 | 1 | 155 | 0.0065 | -59 | c.488 others(74): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239094385 | CGCCCAGG others(52): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0138 others(47): Show |
50 | 242 | 0.2066 | -59 | c.228 others(76): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239150568 | ATACCACA others(52): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0005 | a0001c0001t0003g0041 a0001c0003t0005g0230 |
2 | 242 | 0.0083 | -59 | c.734 others(76): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631791 | TATATAAA others(52): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(73): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0009others(2): Show | a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 others(73): Show |
76 | 392 | 0.1939 | -59 | c.*18 others(70): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 867 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75683865 | CGAATCCT others(52): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | 254 | 0.7244 | -59 | c.120 others(78): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167996 | TATATTAT others(52): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02723.hp1 others(1): Show |
a0007a0028 | a0007c0012a0028c0033 | a0007c0012t0001a0028c0033t0001 | a0007c0012t0001g0078 a0007c0012t0001g0079 a0007c0012t0001g0327 others(1): Show |
4 | 344 | 0.0116 | -59 | c.*35 others(70): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2998 | chr6 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55543420 | GATATATA others(52): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0155 others(2): Show |
5 | 334 | 0.0150 | -59 | c.109 others(76): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
HOXA5_chr7_27136052_27148681 | 27141807 | CTGCTCAG others(52): Show |
C | frameshift_variant others(1): Show |
HIGH | HG02040.hp1 | a0000 | a0000c0003 | a0000c0003t0021 | a0000c0003t0021g0031 | 1 | 398 | 0.0025 | -59 | c.782 others(66): Show |
p.Met others(5): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 2/2 | 914/1670 | 782/813 | 261/270 | chr7 | TogoVar | |||
IDI2_chr10_1013910_1030859 | 1015513 | TCTGAGCC others(52): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 434 | 0.0023 | -59 | c.*39 others(70): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3396 | chr10 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(52): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02896.hp2 others(4): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0004a0006c0010others(2): Show | a0001c0001t0003a0001c0004t0084a0006c0010t0011others(3): Show | a0001c0001t0003g0246 a0001c0004t0084g0098 a0006c0010t0011g0122 others(4): Show |
7 | 310 | 0.0226 | -59 | c.684 others(78): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 105447158 | TAAATATA others(52): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(85): Show |
88 | 141 | 0.6241 | -59 | c.698 others(78): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |