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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSF1_chr8_144286604_144319720 | 144313660 | G | GCGCCTCC others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19058.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0107a0001c0003t0001g0255 | 2 | 330 | 0.0061 | 28 | c.124 others(43): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSFX2_chrX_149587512_149600314 | 149591512 | C | CGGAAGGA others(21): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01981.hp1 HG02258.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0001a0001c0002t0001g0002a0001c0002t0001g0007others(1): Show | 10 | 279 | 0.0358 | 28 | c.*10 others(39): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 999 | chrX | TogoVar | ||||||
HSP90AB1_chr6_44242101_44258883 | 44256006 | G | GGGTTTAC others(21): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01175.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(8): Show | 36 | 432 | 0.0833 | 28 | c.*24 others(39): Show |
HSP90AB1 | ENSG00000096384.20 | transcript | ENST00000371646.10 | protein_coding | 2124 | chr6 | TogoVar | ||||||
HSP90B1_chr12_103925410_103952926 | 103941563 | G | GTGTTGGA others(21): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0139 | 1 | 458 | 0.0022 | 28 | c.123 others(43): Show |
HSP90B1 | ENSG00000166598.16 | transcript | ENST00000299767.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HSPA12A_chr10_116666192_116747566 | 116696002 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18950.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0001g0131 | 3 | 320 | 0.0094 | 28 | c.546 others(45): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 5/11 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116712977 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG02040.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0055a0001c0001t0001g0064a0001c0001t0001g0165others(8): Show | 11 | 320 | 0.0344 | 28 | c.41- others(43): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116726027 | G | GCGCGCAA others(21): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 320 | 0.0031 | 28 | c.40+ others(45): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116732328 | C | CAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145a0001c0001t0002g0170 | 2 | 320 | 0.0063 | 28 | c.40+ others(45): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133085489 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032a0001c0001t0033others(1): Show | a0001c0001t0014g0128a0001c0001t0032g0149a0001c0001t0033g0148others(1): Show | 4 | 364 | 0.0110 | 28 | c.909 others(45): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPB8_chr12_119173931_119199746 | 119199683 | T | TCCTTCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0155 | 1 | 418 | 0.0024 | 28 | c.*58 others(39): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 4938 | chr12 | TogoVar | ||||||
HSPB8_chr12_119173931_119199746 | 119199687 | T | TCCTTCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004a0001c0001t0004g0006a0001c0001t0004g0011others(1): Show | 6 | 418 | 0.0144 | 28 | c.*58 others(39): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 4942 | chr12 | TogoVar | ||||||
HTR1D_chr1_23186895_23222502 | 23187986 | C | CTGTGTGT others(21): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 356 | 0.0028 | 28 | c.*50 others(39): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 3908 | chr1 | TogoVar | ||||||
HTR1D_chr1_23186895_23222502 | 23218508 | T | TTTGGTTG others(21): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0170a0001c0001t0014g0169 | 2 | 356 | 0.0056 | 28 | c.-20 others(39): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1007 | chr1 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114741524 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02040.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0007a0001c0001t0001g0064a0001c0001t0001g0065others(8): Show | 11 | 176 | 0.0625 | 28 | c.349 others(45): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114805835 | C | CATGTATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0012 | a0002c0002t0005g0055a0002c0002t0012g0003 | 2 | 176 | 0.0114 | 28 | c.350 others(47): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114816266 | T | TGATAGAT others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005 | a0002c0002t0001g0154a0002c0002t0002g0034a0002c0002t0002g0037others(1): Show | 4 | 176 | 0.0227 | 28 | c.350 others(47): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR4_chr5_148476547_148659527 | 148655964 | G | GTATGTAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154a0001c0001t0009g0155a0001c0001t0009g0156 | 3 | 310 | 0.0097 | 28 | c.-19 others(39): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 1438 | chr5 | TogoVar | ||||||
HUNK_chr21_31868020_32009064 | 31918956 | T | TGAGGGGC others(21): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0059 | 1 | 328 | 0.0031 | 28 | c.262 others(45): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
HUNK_chr21_31868020_32009064 | 31918984 | G | GGAGGGGC others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0069 | a0001c0001t0064g0026a0001c0001t0069g0024 | 2 | 328 | 0.0061 | 28 | c.262 others(45): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
HYAL1_chr3_50294893_50308574 | 50304296 | A | AAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 28 | c.-85 others(37): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
HYAL3_chr3_50287832_50304405 | 50304296 | A | AAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 28 | c.-51 others(39): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4892 | chr3 | TogoVar | ||||||
HYAL4_chr7_123840169_123882481 | 123857665 | G | GTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0060 | 1 | 394 | 0.0025 | 28 | c.-52 others(45): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HYCC2_chr2_200968718_201076671 | 201076512 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 176 | 0.0057 | 28 | c.-50 others(39): Show |
HYCC2 | ENSG00000155744.10 | transcript | ENST00000681958.1 | protein_coding | 4842 | chr2 | TogoVar | ||||||
HYDIN_chr16_70797084_71235722 | 70902821 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0029 | a0029c0068 | a0029c0068t0001 | a0029c0068t0001g0071 | 1 | 174 | 0.0058 | 28 | c.884 others(45): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 52/85 | chr16 | TogoVar | ||||||
HYKK_chr15_78502577_78541645 | 78514908 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 412 | 0.0024 | 28 | c.338 others(41): Show |
HYKK | ENSG00000188266.14 | transcript | ENST00000388988.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IBTK_chr6_82164987_82252744 | 82173674 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0002a0001c0010t0002 | a0001c0004t0002g0268a0001c0010t0002g0267 | 2 | 296 | 0.0068 | 28 | c.372 others(45): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | ||||||
ICA1L_chr2_202768176_202876766 | 202847703 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0044a0001c0001t0002g0061a0001c0001t0002g0106others(31): Show | 34 | 330 | 0.1030 | 28 | c.-7- others(45): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8145764 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02056.hp1 HG04199.hp1 NA18979.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0111a0001c0001t0001g0206a0001c0001t0004g0157others(1): Show | 4 | 274 | 0.0146 | 28 | c.805 others(45): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8153836 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0227a0001c0001t0001g0230a0001c0001t0001g0237others(1): Show | 4 | 274 | 0.0146 | 28 | c.804 others(45): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICAM2_chr17_63997595_64025633 | 64014330 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | NA19067.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0301 | 2 | 392 | 0.0051 | 28 | c.-45 others(45): Show |
ICAM2 | ENSG00000108622.11 | transcript | ENST00000579788.6 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
ICE1_chr5_5417677_5495220 | 5492980 | A | AGGAAGGA others(21): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 364 | 0.0028 | 28 | c.*36 others(39): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2761 | chr5 | TogoVar | ||||||
ICE1_chr5_5417677_5495220 | 5492980 | A | AGGAAGGA others(21): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0099 | 1 | 364 | 0.0028 | 28 | c.*36 others(39): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2761 | chr5 | TogoVar | ||||||
ICE1_chr5_5417677_5495220 | 5493004 | G | GGGAGGGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0042 | 1 | 364 | 0.0028 | 28 | c.*36 others(39): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2785 | chr5 | TogoVar | ||||||
ICE2_chr15_60414609_60484142 | 60424420 | A | ATGGGCAA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0009others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0174others(241): Show | 261 | 270 | 0.9667 | 28 | c.282 others(45): Show |
ICE2 | ENSG00000128915.12 | transcript | ENST00000261520.9 | protein_coding | 15/15 | chr15 | TogoVar | ||||||
ID3_chr1_23552926_23564501 | 23554774 | C | CAGCCTCT others(21): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 28 | c.*36 others(39): Show |
ID3 | ENSG00000117318.9 | transcript | ENST00000374561.6 | protein_coding | 3151 | chr1 | TogoVar | ||||||
IDH2_chr15_90078045_90107468 | 90098531 | C | CATGTATG others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0352 | 1 | 440 | 0.0023 | 28 | c.115 others(45): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
IDH2_chr15_90078045_90107468 | 90098531 | C | CATGTATG others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0002a0001c0002t0010others(1): Show | a0001c0001t0002g0287a0001c0002t0002g0286a0001c0002t0010g0285others(1): Show | 4 | 440 | 0.0091 | 28 | c.115 others(45): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
IDH3A_chr15_78144362_78176945 | 78158448 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01257.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0010a0001c0002t0002g0024a0001c0002t0002g0121others(2): Show | 9 | 386 | 0.0233 | 28 | c.174 others(43): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IDH3A_chr15_78144362_78176945 | 78158463 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0102 | 1 | 386 | 0.0026 | 28 | c.174 others(43): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IDH3A_chr15_78144362_78176945 | 78158463 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0075a0001c0002t0005g0103 | 2 | 386 | 0.0052 | 28 | c.174 others(43): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IDI2_chr10_1013910_1030859 | 1017256 | G | GAGTGTTG others(21): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 434 | 0.0023 | 28 | c.*22 others(39): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 1653 | chr10 | TogoVar | ||||||
IFI27L2_chr14_94122781_94134604 | 94124920 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01928.hp2 NA18943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0029 | 8 | 433 | 0.0185 | 28 | c.*28 others(39): Show |
IFI27L2 | ENSG00000119632.4 | transcript | ENST00000238609.4 | protein_coding | 2860 | chr14 | TogoVar | ||||||
IFI35_chr17_43001784_43019456 | 43007847 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG03579.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102a0001c0001t0002g0124 | 2 | 340 | 0.0059 | 28 | c.21+ others(41): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
IFIH1_chr2_162262074_162323684 | 162314416 | T | TTTCTTTT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02015.hp1 |
a0002a0004 | a0002c0001a0004c0006 | a0002c0001t0001a0004c0006t0001 | a0002c0001t0001g0163a0004c0006t0001g0149 | 2 | 220 | 0.0091 | 28 | c.453 others(45): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 1/15 | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321380 | T | TACATGCG others(21): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 2 | 323 | 0.0062 | 28 | c.-36 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3589 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321380 | T | TACATGTG others(21): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0162 | 2 | 323 | 0.0062 | 28 | c.-36 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3589 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322093 | C | CATATATG others(21): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 323 | 0.0031 | 28 | c.-29 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2876 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322263 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 323 | 0.0031 | 28 | c.-27 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2706 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322703 | T | TAATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0142 | 1 | 323 | 0.0031 | 28 | c.-23 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2266 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322703 | T | TAATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG02602.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0001g0019a0001c0001t0005g0018a0001c0001t0005g0019others(6): Show | 9 | 323 | 0.0279 | 28 | c.-23 others(39): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2266 | chr21 | TogoVar |