| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GSG1L_chr16_27782528_28068714 | 27946617 | GAGAGAGA others(17): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0016 | 1 | 240 | 0.0042 | -24 | c.397 others(43): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| GSG1L_chr16_27782528_28068714 | 27947540 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG00639.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0103 | 2 | 240 | 0.0083 | -24 | c.397 others(43): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| GSK3B_chr3_119816321_120099447 | 119958764 | AATGAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(132): Show | 135 | 300 | 0.4500 | -24 | c.283 others(43): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| GSR_chr8_30673066_30732846 | 30684928 | CATTTATT others(17): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02273.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0096a0001c0001t0001g0153a0001c0001t0001g0176others(7): Show | 10 | 348 | 0.0287 | -24 | c.104 others(41): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 9/12 | chr8 | TogoVar | ||||||
| GSTA1_chr6_52786371_52808816 | 52796469 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 2 | 436 | 0.0046 | -24 | c.140 others(39): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
| GSTA2_chr6_52745087_52768475 | 52759563 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0116a0002c0002t0010g0117 | 2 | 440 | 0.0046 | -24 | c.-30 others(41): Show |
GSTA2 | ENSG00000244067.3 | transcript | ENST00000493422.3 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| GSTA4_chr6_52972953_53000284 | 52977496 | AAACTCCT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(216): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(73): Show | 219 | 324 | 0.6759 | -24 | c.*95 others(33): Show |
GSTA4 | ENSG00000170899.11 | transcript | ENST00000370963.9 | protein_coding | 456 | chr6 | TogoVar | ||||||
| GSTCD_chr4_105703784_105852725 | 105794823 | TTATCTAT others(17): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01975.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0002t0002 | a0001c0001t0003g0109a0001c0001t0003g0110a0001c0001t0003g0113others(14): Show | 17 | 186 | 0.0914 | -24 | c.124 others(45): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GSTM4_chr1_109651099_109666700 | 109654126 | AAAGAAAG others(17): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 364 | 0.0028 | -24 | c.-22 others(35): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1972 | chr1 | TogoVar | ||||||
| GSTM4_chr1_109651099_109666700 | 109654130 | AAAGAAAG others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 2 | 364 | 0.0055 | -24 | c.-22 others(35): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1968 | chr1 | TogoVar | ||||||
| GSTO2_chr10_104264184_104309950 | 104306052 | TGTGCGCG others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01884.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0013a0001c0002t0040others(1): Show | a0001c0002t0002g0118a0001c0002t0013g0013a0001c0002t0040g0256others(1): Show | 5 | 300 | 0.0167 | -24 | c.*67 others(35): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1103 | chr10 | TogoVar | ||||||
| GTDC1_chr2_143933068_144337512 | 144231843 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(16): Show | 19 | 124 | 0.1532 | -24 | c.-89 others(41): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
| GTF2A2_chr15_59633062_59662515 | 59640843 | AAGACCCA others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(202): Show | 335 | 436 | 0.7684 | -24 | c.304 others(41): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
| GTF2B_chr1_88847633_88896567 | 88861210 | ATGAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 372 | 0.0027 | -24 | c.259 others(39): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
| GTF2F2_chr13_45115510_45289893 | 45245678 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | 210 | 0.1095 | -24 | c.387 others(41): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2H1_chr11_18317567_18372045 | 18370339 | GGAGGCCA others(17): Show |
G | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 370 | 0.0027 | -24 | c.*44 others(35): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 3295 | chr11 | TogoVar | ||||||
| GTF3C2_chr2_27320854_27361764 | 27359494 | AGAAGTGA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02572.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0149a0001c0002t0001g0241a0001c0002t0001g0242 | 3 | 286 | 0.0105 | -24 | c.-28 others(35): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 2731 | chr2 | TogoVar | ||||||
| GTF3C3_chr2_196758035_196804683 | 196785394 | CAGAAACA others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01069.hp2 others(43): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0003a0002c0004t0007 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0004others(29): Show | 46 | 252 | 0.1825 | -24 | c.104 others(39): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 7/17 | chr2 | TogoVar | ||||||
| GTPBP1_chr22_38700944_38738587 | 38704278 | TTTTTTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02165.hp2 NA18747.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0002a0001c0001t0005g0002a0001c0001t0005g0125others(5): Show | 15 | 382 | 0.0393 | -24 | c.-16 others(35): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 1665 | chr22 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108922154 | TACACAAA others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00639.hp2 others(52): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0003c0003t0001a0006c0007t0001 | a0002c0002t0001g0095a0002c0002t0001g0271a0002c0002t0001g0296others(50): Show | 55 | 374 | 0.1471 | -24 | c.205 others(41): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108922182 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG00735.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0089a0003c0003t0001g0004a0003c0003t0001g0006others(26): Show | 31 | 374 | 0.0829 | -24 | c.205 others(41): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108955590 | TAAAAAAA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03139.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0363a0002c0004t0001g0364a0002c0004t0001g0365 | 3 | 374 | 0.0080 | -24 | c.-18 others(35): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106740648 | CTGTATGT others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00642.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0039a0001c0001t0001g0068a0001c0001t0001g0137others(35): Show | 38 | 256 | 0.1484 | -24 | c.183 others(45): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY2F_chrX_109367906_109487086 | 109481042 | AGAAGGAA others(17): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 217 | 0.0046 | -24 | c.-86 others(39): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2826071 | CAAAGGAA others(17): Show |
C | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0309 | 1 | 316 | 0.0032 | -24 | c.-30 others(35): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 2858 | chrX | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2844694 | GTGTATAC others(17): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp1 HG03017.hp1 |
a0002a0012 | a0002c0002a0012c0018 | a0002c0002t0005a0002c0002t0006a0012c0018t0001 | a0002c0002t0005g0050a0002c0002t0006g0051a0012c0018t0001g0099 | 3 | 316 | 0.0095 | -24 | c.149 others(41): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2844720 | GTGTATAC others(17): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 2 | 316 | 0.0063 | -24 | c.149 others(41): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2871689 | CAAATAAA others(17): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0178 | 1 | 316 | 0.0032 | -24 | c.103 others(43): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYPC_chr2_126651158_126701667 | 126663950 | GTCTCTCT others(17): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0213a0001c0001t0001g0214others(4): Show | 8 | 416 | 0.0192 | -24 | c.49+ others(39): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GYS1_chr19_48963130_48998309 | 48963356 | TGGGTCTC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 390 | 0.0026 | -24 | c.*59 others(35): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 4773 | chr19 | TogoVar | ||||||
| GYS1_chr19_48963130_48998309 | 48976822 | TGGCATAA others(17): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02622.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(3): Show | a0001c0001t0001a0001c0007t0006a0001c0008t0006others(3): Show | a0001c0001t0001g0011a0001c0007t0006g0063a0001c0007t0006g0064others(6): Show | 10 | 390 | 0.0256 | -24 | c.130 others(43): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 10/15 | chr19 | TogoVar | ||||||
| GYS2_chr12_21531107_21609847 | 21565390 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(9): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0010 | a0001c0001t0008a0003c0003t0001a0008c0010t0001 | a0001c0001t0008g0298a0003c0003t0001g0010a0003c0003t0001g0020others(8): Show | 12 | 312 | 0.0385 | -24 | c.824 others(41): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
| GYS2_chr12_21531107_21609847 | 21582582 | GATAGATA others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0114a0001c0008t0001g0115 | 2 | 312 | 0.0064 | -24 | c.122 others(41): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
| GZMM_chr19_539053_554922 | 551611 | TCTTCCCC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0159 | 2 | 398 | 0.0050 | -24 | c.*18 others(35): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1690 | chr19 | TogoVar | ||||||
| H1-8_chr3_129538175_129556467 | 129540468 | GTATATAT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01243.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0008 | a0001c0001t0001a0001c0005t0001a0004c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0034others(8): Show | 21 | 422 | 0.0498 | -24 | c.-27 others(35): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2706 | chr3 | TogoVar | ||||||
| H2AC15_chr6_27832880_27843375 | 27840742 | AAAATAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 3 | 408 | 0.0074 | -24 | c.-24 others(35): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 2368 | chr6 | TogoVar | ||||||
| H2AZ2_chr7_44826978_44853087 | 44846042 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0045a0001c0001t0013g0298a0001c0001t0026g0299 | 4 | 406 | 0.0099 | -24 | c.3+1 others(37): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| H2BC15_chr6_27833569_27844110 | 27840742 | AAAATAAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 416 | 0.0072 | -24 | c.*17 others(35): Show |
H2BC15 | ENSG00000233822.6 | transcript | ENST00000612898.2 | protein_coding | 1633 | chr6 | TogoVar | ||||||
| H2BC6_chr6_26178761_26189230 | 26183509 | CAACTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18990.hp2 NA19067.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 388 | 0.0103 | -24 | c.-28 others(33): Show |
H2BC6 | ENSG00000274290.3 | transcript | ENST00000614097.3 | protein_coding | 251 | chr6 | TogoVar | ||||||
| H3C6_chr6_26220135_26230616 | 26226361 | CTTATTTA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 38 | 354 | 0.1073 | -24 | c.*79 others(33): Show |
H3C6 | ENSG00000274750.3 | transcript | ENST00000614911.3 | protein_coding | 746 | chr6 | TogoVar | ||||||
| H4C15_chr1_149855764_149866159 | 149865950 | AGAAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -24 | c.-48 others(35): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4792 | chr1 | TogoVar | ||||||
| H4C15_chr1_149855764_149866159 | 149865955 | GAAGAAAG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 206 | 0.0097 | -24 | c.-48 others(35): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4797 | chr1 | TogoVar | ||||||
| HAAO_chr2_42762089_42797583 | 42786009 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353a0001c0001t0001g0376 | 2 | 410 | 0.0049 | -24 | c.160 others(41): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
| HABP2_chr10_113548053_113594602 | 113592178 | AACATGGG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0149 | 1 | 446 | 0.0022 | -24 | c.*38 others(35): Show |
HABP2 | ENSG00000148702.15 | transcript | ENST00000351270.4 | protein_coding | 2577 | chr10 | TogoVar | ||||||
| HABP4_chr9_96445169_96496336 | 96456780 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 306 | 0.0033 | -24 | c.350 others(41): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| HACD3_chr15_65525463_65583349 | 65537946 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0006g0253others(1): Show | 4 | 328 | 0.0122 | -24 | c.87+ others(39): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| HACD3_chr15_65525463_65583349 | 65537948 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00738.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0041others(16): Show | 20 | 328 | 0.0610 | -24 | c.87+ others(39): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| HACD3_chr15_65525463_65583349 | 65537950 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 26 | 328 | 0.0793 | -24 | c.87+ others(39): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| HACD3_chr15_65525463_65583349 | 65537952 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0037others(11): Show | 14 | 328 | 0.0427 | -24 | c.87+ others(39): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| HACD3_chr15_65525463_65583349 | 65537954 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0033a0001c0001t0002g0244a0001c0001t0011g0173others(3): Show | 6 | 328 | 0.0183 | -24 | c.87+ others(39): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |