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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAGH_chr16_1802629_1831825 | 1823799 | AGAACACA others(37): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0079 | 1 | 436 | 0.0023 | -44 | c.77- others(57): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044444 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | NA19005.hp2 NA19090.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298 a0004c0005t0001g0299 |
2 | 352 | 0.0057 | -44 | c.782 others(61): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044603 | GAAAGAAA others(37): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0009 | 1 | 352 | 0.0028 | -44 | c.782 others(61): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164733 | GGCGGGGC others(37): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -44 | c.-12 others(55): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1244 | chr16 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 604694 | AATGCGGG others(37): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 |
a0001 | a0001c0032a0001c0098 | a0001c0032t0004a0001c0098t0006 | a0001c0032t0004g0381 a0001c0098t0006g0064 |
2 | 408 | 0.0049 | -44 | c.105 others(61): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(37): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0195 | 1 | 270 | 0.0037 | -44 | c.178 others(61): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HENMT1_chr1_108643295_108666093 | 108658056 | CACACATA others(37): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 442 | 0.0023 | -44 | c.22- others(57): Show |
HENMT1 | ENSG00000162639.16 | transcript | ENST00000651461.1 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682288 | CGTGTGTG others(37): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 392 | 0.0026 | -44 | c.148 others(61): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181116 | GGAGAGGG others(37): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 234 | 0.0043 | -44 | c.101 others(62): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656836 | AAAGGAAG others(37): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01981.hp2 others(8): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(5): Show | a0001c0002t0002g0075 a0001c0002t0003g0272 a0001c0002t0007g0297 others(8): Show |
11 | 374 | 0.0294 | -44 | c.903 others(59): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75663962 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 254 | 0.0039 | -44 | c.121 others(63): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824762 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01167.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0068a0001c0004t0006a0001c0004t0007others(3): Show | a0001c0001t0068g0124 a0001c0004t0006g0088 a0001c0004t0007g0087 others(3): Show |
6 | 134 | 0.0448 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824764 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02040.hp2 HG03669.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0017a0002c0002t0037a0002c0002t0062others(1): Show | a0001c0001t0017g0118 a0002c0002t0037g0094 a0002c0002t0062g0014 others(1): Show |
4 | 134 | 0.0299 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824766 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01261.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0012g0010 others(4): Show |
7 | 134 | 0.0522 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824768 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01496.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0032a0002c0002others(1): Show | a0001c0001t0018a0001c0001t0064a0001c0032t0075others(2): Show | a0001c0001t0018g0120 a0001c0001t0064g0111 a0001c0032t0075g0069 others(2): Show |
5 | 134 | 0.0373 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824770 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0063 | a0001c0001t0001g0018 a0002c0002t0063g0022 |
2 | 134 | 0.0149 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824772 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0123 | 1 | 134 | 0.0075 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824774 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0127 | 1 | 134 | 0.0075 | -44 | c.-80 others(65): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130357211 | CGGGTAGA others(37): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0103a0001c0216 | a0001c0103t0001a0001c0216t0001 | a0001c0103t0001g0055 a0001c0216t0001g0047 |
2 | 258 | 0.0078 | -44 | c.542 others(61): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 34/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55477278 | ATATATTA others(37): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0304 a0001c0001t0001g0307 |
3 | 334 | 0.0090 | -44 | c.795 others(63): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55539966 | AAGGAAGG others(37): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 334 | 0.0030 | -44 | c.297 others(61): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55539970 | AAGGAAGG others(37): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp2 HG02056.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0067 others(20): Show |
23 | 334 | 0.0689 | -44 | c.297 others(61): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55539974 | AAGGAAGG others(37): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19012.hp2 NA19081.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089 a0001c0001t0002g0088 a0001c0001t0002g0102 others(1): Show |
4 | 334 | 0.0120 | -44 | c.297 others(61): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
HMGCS1_chr5_43282470_43318412 | 43317341 | TACAAAAA others(37): Show |
T | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 312 | 0.0032 | -44 | c.-40 others(55): Show |
HMGCS1 | ENSG00000112972.15 | transcript | ENST00000325110.11 | protein_coding | 3930 | chr5 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389285 | CTCTCTTC others(37): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0345 | 1 | 384 | 0.0026 | -44 | c.637 others(59): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389367 | CCTTCCTT others(37): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0195 | 1 | 384 | 0.0026 | -44 | c.637 others(59): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HNRNPC_chr14_21204147_21274442 | 21234841 | GATACTTC others(37): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 others(58): Show |
63 | 388 | 0.1624 | -44 | c.-36 others(59): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79427652 | CTTCCTTC others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0118 others(251): Show |
254 | 290 | 0.8759 | -44 | c.527 others(63): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HP1BP3_chr1_20735266_20792307 | 20750322 | AACACACA others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0029 others(66): Show |
77 | 378 | 0.2037 | -44 | c.982 others(59): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49157059 | CTCTCTCT others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0005 | 1 | 406 | 0.0025 | -44 | c.-18 others(55): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1664 | chr19 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49157190 | TCTCCCTG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0009 | 1 | 406 | 0.0025 | -44 | c.-19 others(55): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1795 | chr19 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213398 | AGGAGAGC others(37): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 368 | 0.0027 | -44 | c.*25 others(55): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1561 | chr20 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87378823 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01255.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0277 others(5): Show |
8 | 390 | 0.0205 | -44 | c.318 others(61): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96300080 | AGTGCTAC others(37): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0367 | 1 | 374 | 0.0027 | -44 | c.155 others(61): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116734140 | TTCACACC others(37): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0025a0001c0007t0001 | a0001c0001t0001g0007 a0001c0001t0001g0149 a0001c0001t0001g0256 others(7): Show |
10 | 320 | 0.0313 | -44 | c.40+ others(59): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114694434 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0001g0152 others(4): Show |
7 | 176 | 0.0398 | -44 | c.-79 others(63): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3099583 | TCTATTGT others(37): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0223 | 1 | 294 | 0.0034 | -44 | c.468 others(59): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 3/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IBSP_chr4_87794554_87817435 | 87813979 | CATATATA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01192.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0025 | 2 | 454 | 0.0044 | -44 | c.*20 others(55): Show |
IBSP | ENSG00000029559.7 | transcript | ENST00000226284.7 | protein_coding | 1545 | chr4 | TogoVar | |||||||
IDI1_chr10_1034419_1054119 | 1042878 | AGTTATAA others(37): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025 a0001c0001t0006g0040 a0001c0001t0006g0108 |
6 | 438 | 0.0137 | -44 | c.407 others(59): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 3/4 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323985 | GGGATATA others(37): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 323 | 0.0031 | -44 | c.-10 others(55): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 984 | chr21 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162852 | TTTCTTTC others(37): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0038a0001c0003t0019 | a0001c0001t0038g0183 a0001c0003t0019g0325 |
2 | 396 | 0.0051 | -44 | c.368 others(61): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IFT80_chr3_160251986_160404225 | 160312624 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(73): Show |
78 | 212 | 0.3679 | -44 | c.958 others(61): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | |||||||
IGF2BP1_chr17_48992385_49061145 | 49019938 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02080.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0057 | a0001c0001t0005g0157 a0001c0001t0057g0150 |
2 | 318 | 0.0063 | -44 | c.237 others(61): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
IGF2BP1_chr17_48992385_49061145 | 49019939 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02083.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0146 a0001c0001t0005g0154 a0001c0001t0005g0158 others(1): Show |
4 | 318 | 0.0126 | -44 | c.237 others(61): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160090952 | CGAGAAGG others(37): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0029 | 1 | 310 | 0.0032 | -44 | c.665 others(61): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(37): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp1 HG01975.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(5): Show | a0001c0001t0001g0187 a0001c0001t0003g0230 a0001c0001t0003g0307 others(10): Show |
13 | 310 | 0.0419 | -44 | c.684 others(63): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51322403 | CCCAGAGA others(37): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 418 | 0.0024 | -44 | c.158 others(59): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18253041 | CCCTGGGT others(37): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 248 | 0.0040 | -44 | c.183 others(63): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
IKZF3_chr17_39752718_39869312 | 39850052 | TATATTAT others(37): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp2 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0010a0001c0001t0035a0001c0001t0037others(14): Show | a0001c0001t0010g0164 a0001c0001t0010g0195 a0001c0001t0010g0200 others(66): Show |
71 | 256 | 0.2773 | -44 | c.7+1 others(59): Show |
IKZF3 | ENSG00000161405.17 | transcript | ENST00000346872.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
IKZF3_chr17_39752718_39869312 | 39850148 | ATATGTAT others(37): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0204 | 1 | 256 | 0.0039 | -44 | c.7+1 others(59): Show |
IKZF3 | ENSG00000161405.17 | transcript | ENST00000346872.8 | protein_coding | 1/7 | chr17 | TogoVar |