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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0085 | 2 | 318 | 0.0063 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02135.hp1 HG04199.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0035a0001c0001t0001g0050a0005c0008t0001g0043 | 3 | 318 | 0.0094 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18747.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0072a0001c0001t0001g0089 | 3 | 318 | 0.0094 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 318 | 0.0031 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 318 | 0.0031 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0305 | 1 | 318 | 0.0031 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | NA19060.hp2 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0268a0002c0003t0001g0210 | 2 | 318 | 0.0063 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1016): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0020 | a0003c0020t0004 | a0003c0020t0004g0289 | 1 | 298 | 0.0034 | 1023 | c.955 others(1040): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1016): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1023 | c.*36 others(1034): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914127 | C | CCCCGAGG others(1016): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0060 | a0060c0084 | a0060c0084t0002 | a0060c0084t0002g0053 | 1 | 246 | 0.0041 | 1023 | c.212 others(1040): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914424 | C | CCCCGAGG others(1016): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0067 | a0067c0069 | a0067c0069t0002 | a0067c0069t0002g0015 | 1 | 246 | 0.0041 | 1023 | c.212 others(1042): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914748 | A | ACCCCGGC others(1016): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0072 | a0072c0075 | a0072c0075t0001 | a0072c0075t0001g0235 | 1 | 246 | 0.0041 | 1023 | c.212 others(1042): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1016): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 236 | 0.0042 | 1023 | c.342 others(1044): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585737 | C | CCTGGATG others(1016): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0139 | 1 | 236 | 0.0042 | 1023 | c.294 others(1040): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647413 | A | AATCCTCC others(1016): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0130 | 1 | 276 | 0.0036 | 1023 | c.*52 others(1034): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2069 | chr15 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1016): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0068 | 1 | 298 | 0.0034 | 1023 | c.126 others(1040): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400821 | C | CCACCACC others(1016): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0008 | a0008c0120 | a0008c0120t0002 | a0008c0120t0002g0225 | 1 | 256 | 0.0039 | 1023 | c.323 others(1042): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400977 | T | TCACCATC others(1016): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0012 | a0012c0165 | a0012c0165t0005 | a0012c0165t0005g0017 | 1 | 256 | 0.0039 | 1023 | c.323 others(1042): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(1016): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0027 | a0002c0027t0004 | a0002c0027t0004g0148 | 1 | 250 | 0.0040 | 1023 | c.188 others(1042): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99927963 | G | GTGGTGGT others(1016): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0259 | 1 | 288 | 0.0035 | 1023 | c.190 others(1042): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(1016): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 204 | 0.0049 | 1023 | c.240 others(1042): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GADD45A_chr1_67680201_67693334 | 67680757 | A | AAGCATGA others(1016): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 1023 | c.-47 others(1034): Show |
GADD45A | ENSG00000116717.13 | transcript | ENST00000370986.9 | protein_coding | 4443 | chr1 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807023 | A | ACCCTCCC others(1016): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 314 | 0.0032 | 1023 | c.*28 others(1034): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2737 | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 350 | 0.0029 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 350 | 0.0029 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 350 | 0.0029 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0203 | 2 | 350 | 0.0057 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | 350 | 0.0057 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 350 | 0.0029 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1016): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 350 | 0.0029 | 1023 | c.94- others(1036): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399307 | C | CCACCATC others(1016): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 314 | 0.0032 | 1023 | c.-25 others(1040): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399418 | C | CCACCACC others(1016): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 314 | 0.0032 | 1023 | c.-25 others(1040): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294663 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294663 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 HG01516.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0066others(4): Show | 9 | 388 | 0.0232 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1016): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01358.hp2 others(17): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0014others(14): Show | 20 | 388 | 0.0516 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294671 | T | TCCACTTA others(1016): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294674 | A | ACTTATCC others(1016): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 388 | 0.0026 | 1023 | c.105 others(1040): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152576 | C | CATCTCCT others(1016): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0084 | 1 | 274 | 0.0037 | 1023 | c.804 others(1040): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1016): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 204 | 0.0049 | 1023 | c.978 others(1040): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1016): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0201 | 1 | 236 | 0.0042 | 1023 | c.193 others(1042): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807023 | A | ACCCTCCC others(1016): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 319 | 0.0031 | 1023 | c.-22 others(1034): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2169 | chr2 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(1016): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0036 | a0001c0036t0009 | a0001c0036t0009g0298 | 1 | 324 | 0.0031 | 1023 | c.141 others(1040): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949046 | T | TCCCCGCG others(1016): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 242 | 0.0041 | 1023 | c.360 others(1042): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1016): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0020 | 2 | 66 | 0.0303 | 1023 | c.234 others(1038): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1016): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 2 | 66 | 0.0303 | 1023 | c.234 others(1038): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |