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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HELZ_chr17_67065444_67250196 | 67086629 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0005 | a0005c0007 | a0005c0007t0028 | a0005c0007t0028g0089 | 1 | 274 | 0.0037 | 52 | c.549 others(69): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059668 | T | TTATATTA others(45): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 NA18612.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 |
3 | 360 | 0.0083 | 52 | c.226 others(71): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059778 | T | TATATATC others(45): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 a0001c0002t0001g0202 |
2 | 360 | 0.0056 | 52 | c.226 others(71): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059843 | T | TATTATAT others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 |
2 | 360 | 0.0056 | 52 | c.226 others(71): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181081 | T | TGGAGGGA others(45): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 234 | 0.0043 | 52 | c.101 others(71): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGS_chr17_81679011_81707121 | 81686754 | G | GCTGCTGT others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(59): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0025a0002c0002others(5): Show | a0001c0001t0001a0001c0025t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0081 a0001c0025t0001g0078 a0002c0002t0002g0001 others(25): Show |
62 | 414 | 0.1498 | 52 | c.199 others(67): Show |
HGS | ENSG00000185359.14 | transcript | ENST00000329138.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(45): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 268 | 0.0037 | 52 | c.-21 others(63): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307957 | A | AAAATATA others(45): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 398 | 0.0025 | 52 | c.268 others(69): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69332357 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02976.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0174 a0001c0001t0002g0087 a0001c0003t0002g0089 others(3): Show |
6 | 280 | 0.0214 | 52 | c.76- others(69): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HK1_chr10_69313847_69406882 | 69332357 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02976.hp2 HG03017.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0005others(2): Show | a0001c0001t0001g0214 a0001c0001t0001g0251 a0001c0003t0001g0021 others(4): Show |
7 | 296 | 0.0237 | 52 | c.64- others(69): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000359426.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74882605 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01496.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0002g0341 others(4): Show |
7 | 394 | 0.0178 | 52 | c.183 others(69): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32663612 | G | GCCTACAG others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(17): Show |
a0008a0017 | a0008c0008a0017c0016 | a0008c0008t0008a0017c0016t0008 | a0008c0008t0008g0008 a0008c0008t0008g0051 a0017c0016t0008g0052 |
20 | 402 | 0.0498 | 52 | c.379 others(69): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36868274 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0056 | a0001c0001t0010g0213 a0001c0001t0056g0198 |
2 | 258 | 0.0078 | 52 | c.189 others(73): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130312505 | G | GTCTCTCT others(45): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0073 | a0073c0138 | a0073c0138t0002 | a0073c0138t0002g0210 | 1 | 258 | 0.0039 | 52 | c.235 others(71): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02071.hp1 |
a0001 | a0001c0063a0001c0223 | a0001c0063t0001a0001c0223t0001 | a0001c0063t0001g0029 a0001c0223t0001g0017 |
2 | 258 | 0.0078 | 52 | c.235 others(71): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0024 | a0024c0113 | a0024c0113t0001 | a0024c0113t0001g0077 | 1 | 258 | 0.0039 | 52 | c.235 others(71): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 258 | 0.0039 | 52 | c.235 others(71): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39337369 | G | GAGATATA others(45): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 414 | 0.0024 | 52 | c.*57 others(63): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4945 | chr21 | TogoVar | |||||||
HMGN1_chr21_39337315_39354088 | 39337369 | G | GATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0047 | 1 | 414 | 0.0024 | 52 | c.*57 others(63): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4945 | chr21 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389395 | C | CCTTCCTT others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 384 | 0.0026 | 52 | c.637 others(67): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HNRNPD_chr4_82347498_82378991 | 82347971 | G | GTATATAT others(45): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0169 a0001c0001t0003g0010 |
2 | 332 | 0.0060 | 52 | c.*62 others(63): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 4526 | chr4 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79500520 | C | CAGACGGC others(45): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 290 | 0.0035 | 52 | c.5+1 others(67): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27114817 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 a0001c0001t0005g0238 |
2 | 326 | 0.0061 | 52 | c.-12 others(71): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27140001 | C | CAGAGAGA others(45): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0304 | 1 | 326 | 0.0031 | 52 | c.-39 others(67): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
HOXA5_chr7_27136052_27148681 | 27140001 | C | CAGAGAGA others(45): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 398 | 0.0025 | 52 | c.*18 others(63): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 1050 | chr7 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(45): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 306 | 0.0033 | 52 | c.*26 others(63): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(45): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 306 | 0.0033 | 52 | c.*26 others(63): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(45): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 306 | 0.0033 | 52 | c.*26 others(63): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HPS4_chr22_26445882_26488783 | 26482901 | A | ATTGTTTC others(45): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0029 | a0003c0003t0029g0059 | 1 | 404 | 0.0025 | 52 | c.-47 others(69): Show |
HPS4 | ENSG00000100099.22 | transcript | ENST00000398145.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87378929 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 390 | 0.0026 | 52 | c.318 others(69): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0330 | 1 | 394 | 0.0025 | 52 | c.369 others(69): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(45): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 374 | 0.0027 | 52 | c.202 others(71): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(45): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0328 | 1 | 374 | 0.0027 | 52 | c.202 others(71): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313723 | G | GCGCCGCC others(45): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0268 | 1 | 330 | 0.0030 | 52 | c.124 others(69): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116732328 | C | CAAAGAAA others(45): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 HG01891.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0241 a0001c0001t0002g0238 a0001c0003t0002g0237 others(1): Show |
4 | 320 | 0.0125 | 52 | c.40+ others(69): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133109021 | T | TGGGGGGG others(45): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 364 | 0.0028 | 52 | c.*45 others(63): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2573 | chr5 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133109021 | T | TGGGGGGG others(45): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02572.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011 | a0001c0002t0002g0036 a0001c0002t0002g0063 a0001c0002t0011g0051 |
3 | 364 | 0.0082 | 52 | c.*45 others(63): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2573 | chr5 | TogoVar | |||||||
HTT_chr4_3069681_3248957 | 3169003 | A | ATTCTTTC others(45): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp2 |
a0010a0025 | a0010c0023a0025c0026 | a0010c0023t0003a0025c0026t0003 | a0010c0023t0003g0013 a0025c0026t0003g0022 |
2 | 294 | 0.0068 | 52 | c.386 others(71): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 29/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IBTK_chr6_82164987_82252744 | 82173674 | A | AATAAATA others(45): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 296 | 0.0034 | 52 | c.372 others(69): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
ICOSLG_chr21_44217991_44245943 | 44225597 | T | TACAGCAT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0033 | 1 | 41 | 0.0244 | 52 | c.*34 others(63): Show |
ICOSLG | ENSG00000160223.18 | transcript | ENST00000407780.8 | protein_coding | 7/7 | 3436 | chr21 | TogoVar | ||||||
ICOSLG_chr21_44217991_44245943 | 44225639 | G | GTGAGCTG others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0007 | 1 | 41 | 0.0244 | 52 | c.*33 others(63): Show |
ICOSLG | ENSG00000160223.18 | transcript | ENST00000407780.8 | protein_coding | 7/7 | 3394 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(45): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0084 | 1 | 323 | 0.0031 | 52 | c.-19 others(63): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323207 | T | TATATATA others(45): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0086 | 1 | 323 | 0.0031 | 52 | c.-18 others(63): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1762 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323389 | T | TATGGAAT others(45): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0065 |
2 | 323 | 0.0062 | 52 | c.-16 others(63): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1580 | chr21 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661259 | C | CATACATA others(45): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0042 |
2 | 358 | 0.0056 | 52 | c.*20 others(63): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1988 | chr11 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661259 | C | CATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02970.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0113 others(1): Show |
4 | 358 | 0.0112 | 52 | c.*20 others(63): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1988 | chr11 | TogoVar | |||||||
IGF1R_chr15_98643539_98969530 | 98968255 | G | GGGTGGAG others(45): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 210 | 0.0048 | 52 | c.*10 others(65): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 3726 | chr15 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102415543 | T | TTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG00733.hp1 NA19066.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029a0001c0001t0072 | a0001c0001t0001g0356 a0001c0001t0029g0112 a0001c0001t0072g0237 |
3 | 360 | 0.0083 | 52 | c.402 others(69): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102415543 | T | TTTCCTTC others(45): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021 | a0001c0001t0011g0351 a0001c0001t0021g0350 |
2 | 360 | 0.0056 | 52 | c.402 others(69): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102415543 | T | TTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 360 | 0.0028 | 52 | c.402 others(69): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar |