| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT3_chr15_59606783_59627723 | 59611084 | C | CCCTCCCC others(44): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 428 | 0.0023 | 51 | c.-11 others(62): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 698 | chr15 | TogoVar | ||||||
| GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 412 | 0.0024 | 51 | c.128 others(66): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GEN1_chr2_17749138_17793946 | 17753369 | C | CCGCCTGG others(44): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 318 | 0.0031 | 51 | c.-99 others(60): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 768 | chr2 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 897651 | A | AGGGGGCA others(44): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0001g0245a0001c0001t0008g0188a0001c0002t0002g0159others(4): Show | 7 | 384 | 0.0182 | 51 | c.*22 others(62): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1216 | chr7 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42576046 | T | TAAATAAA others(44): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0085 | 1 | 210 | 0.0048 | 51 | c.70+ others(68): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(44): Show |
5_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0385 | 1 | 444 | 0.0023 | 51 | c.-18 others(60): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | |||||
| GLB1L3_chr11_134271379_134324564 | 134308214 | C | CCACCACC others(44): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 422 | 0.0024 | 51 | c.961 others(68): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L3_chr11_134271379_134324564 | 134308365 | C | CCATCACC others(44): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0285a0001c0002t0002g0286 | 2 | 422 | 0.0047 | 51 | c.961 others(68): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLG1_chr16_74442440_74612114 | 74539999 | A | ATATATTA others(44): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0192 | 1 | 342 | 0.0029 | 51 | c.439 others(68): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
| GLG1_chr16_74442440_74612114 | 74542708 | G | GGAAGGGA others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01255.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0013a0001c0005t0006 | a0001c0001t0006g0270a0001c0001t0006g0273a0001c0001t0006g0275others(3): Show | 6 | 342 | 0.0175 | 51 | c.439 others(70): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
| GLG1_chr16_74442440_74612114 | 74542708 | G | GGAAGGGA others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0289 | 1 | 342 | 0.0029 | 51 | c.439 others(70): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
| GLI3_chr7_41955949_42242209 | 41968731 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0011 | a0001c0011t0012 | a0001c0011t0012g0155 | 1 | 158 | 0.0063 | 51 | c.210 others(68): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
| GLRA1_chr5_151817513_151929851 | 151849458 | T | TTCCTTTC others(44): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 284 | 0.0035 | 51 | c.912 others(68): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
| GLT6D1_chr9_135618648_135644540 | 135620106 | C | CCTACTCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03098.hp2 |
a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0256a0003c0002t0004g0261 | 2 | 436 | 0.0046 | 51 | c.*39 others(62): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3541 | chr9 | TogoVar | ||||||
| GMPR_chr6_16233587_16300549 | 16266420 | G | GTGAAAAA others(44): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG02071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0139a0001c0001t0001g0266others(17): Show | 21 | 344 | 0.0611 | 51 | c.466 others(68): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(44): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0190 | a0001c0001t0190g0358 | 1 | 366 | 0.0027 | 51 | c.*56 others(62): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
| GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(44): Show |
3_prime_UTR_variant | MODIFIER | HG02148.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0168 | a0001c0001t0058g0098a0001c0001t0168g0190 | 2 | 366 | 0.0055 | 51 | c.*56 others(62): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
| GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0171 | a0001c0001t0171g0342 | 1 | 366 | 0.0027 | 51 | c.*56 others(62): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
| GNB5_chr15_52110100_52196392 | 52117103 | T | TATATATA others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0135 | a0001c0002t0135g0270 | 1 | 366 | 0.0027 | 51 | c.*56 others(62): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5653 | chr15 | TogoVar | |||||
| GNB5_chr15_52110100_52196392 | 52119338 | A | AAGGGAGG others(44): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0170a0001c0003t0021a0001c0005t0156 | a0001c0001t0170g0338a0001c0003t0021g0354a0001c0003t0021g0355others(1): Show | 4 | 366 | 0.0109 | 51 | c.*33 others(62): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3418 | chr15 | TogoVar | |||||
| GNG2_chr14_51855612_51974795 | 51942590 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0052a0001c0001t0002g0060a0001c0001t0016g0304others(1): Show | 4 | 380 | 0.0105 | 51 | c.-29 others(68): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GOLGA8A_chr15_34374068_34442808 | 34437425 | C | CCGCCGCC others(44): Show |
5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01109.hp2 others(21): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0015a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0065others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0049others(21): Show | 24 | 245 | 0.0980 | 51 | c.-12 others(62): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47735 | chr15 | TogoVar | |||||
| GOLM2_chr15_44283719_44420758 | 44288493 | C | CGAGAGAG others(44): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0106 | 1 | 150 | 0.0067 | 51 | c.-53 others(60): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 225 | chr15 | TogoVar | ||||||
| GPC1_chr2_240430663_240473076 | 240434196 | A | AGCTGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0243 | 1 | 398 | 0.0025 | 51 | c.-17 others(62): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1466 | chr2 | TogoVar | ||||||
| GPR158_chr10_25170001_25607229 | 25241306 | T | TTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0076 | 1 | 162 | 0.0062 | 51 | c.100 others(72): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GPR158_chr10_25170001_25607229 | 25338547 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0003c0003t0002 | a0002c0002t0005g0027a0003c0003t0002g0007 | 2 | 162 | 0.0124 | 51 | c.100 others(72): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GPR173_chrX_53043789_53085615 | 53061991 | A | AGGGAAGA others(44): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 208 | 0.0048 | 51 | c.-98 others(70): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| GRAMD1B_chr11_123425269_123632767 | 123457117 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0229a0001c0001t0008g0227 | 2 | 282 | 0.0071 | 51 | c.375 others(70): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| GREM2_chr1_240484573_240617155 | 240536567 | G | GGAGTTTA others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0053others(119): Show | 122 | 376 | 0.3245 | 51 | c.-1- others(68): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| GRHL2_chr8_101487439_101674726 | 101509141 | C | CCTTTCTT others(44): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02523.hp2 HG02965.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0078a0001c0001t0002g0047others(10): Show | 13 | 306 | 0.0425 | 51 | c.20+ others(68): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GRHL2_chr8_101487439_101674726 | 101509145 | C | CCTTTCTT others(44): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 306 | 0.0033 | 51 | c.20+ others(68): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GRID2_chr4_92298966_93779566 | 93163399 | T | TGTATATA others(44): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0028 | 1 | 34 | 0.0294 | 51 | c.736 others(70): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 4/15 | chr4 | TogoVar | ||||||
| GRIN2B_chr12_13532337_13986602 | 13607293 | T | TAAAAAAT others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0004 | a0001c0004t0096 | a0001c0004t0096g0010 | 1 | 194 | 0.0052 | 51 | c.201 others(70): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | ||||||
| GRK5_chr10_119202571_119464745 | 119261070 | G | GGCCGGGC others(44): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0002 | a0003c0002t0055 | a0003c0002t0055g0174 | 1 | 202 | 0.0050 | 51 | c.52+ others(68): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GSN_chr9_121263162_121337842 | 121328344 | T | TTGTGTTT others(44): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 322 | 0.0031 | 51 | c.176 others(68): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GSTM2_chr1_109663057_109680286 | 109670103 | A | AGGGGAGG others(44): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 356 | 0.0028 | 51 | c.360 others(66): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
| GTF2H5_chr6_158163350_158204344 | 158169745 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0055a0001c0001t0012g0051 | 2 | 384 | 0.0052 | 51 | c.-34 others(66): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GTPBP6_chrX_299759_323796 | 320522 | C | CCAGCCCT others(44): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0029 | a0029c0015 | a0029c0015t0001 | a0029c0015t0001g0008 | 1 | 155 | 0.0065 | 51 | c.-17 others(62): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 1727 | chrX | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106710005 | T | TTATATAC others(44): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02280.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(1): Show | 4 | 256 | 0.0156 | 51 | c.183 others(70): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106710081 | A | ATGTATAT others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0029 | 1 | 256 | 0.0039 | 51 | c.183 others(70): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| H1-7_chr12_48323980_48335279 | 48332835 | A | ACCTCCCG others(44): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 424 | 0.0024 | 51 | c.*27 others(62): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2557 | chr12 | TogoVar | ||||||
| H1-7_chr12_48323980_48335279 | 48332960 | G | GGGGGGGG others(44): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 424 | 0.0024 | 51 | c.*29 others(62): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2682 | chr12 | TogoVar | ||||||
| H3Y1_chr5_17649868_17660849 | 17652065 | C | CCCCCTCC others(44): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01243.hp1 others(23): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0009 | a0001c0002t0002a0001c0002t0004a0001c0004t0002others(1): Show | a0001c0002t0002g0000a0001c0002t0004g0000a0001c0004t0002g0000others(1): Show | 26 | 376 | 0.0692 | 51 | c.*30 others(62): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2802 | chr5 | TogoVar | ||||||
| HBZ_chr16_147644_159503 | 153113 | A | AGACAGTG others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 432 | 0.0046 | 51 | c.95+ others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HBZ_chr16_147644_159503 | 154156 | G | GTGCGGGG others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 432 | 0.0023 | 51 | c.300 others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
| HBZ_chr16_147644_159503 | 154177 | G | GGGTCGCG others(44): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01175.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0013a0002c0004t0002g0072 | 5 | 432 | 0.0116 | 51 | c.300 others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(44): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | 51 | c.300 others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(44): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 432 | 0.0023 | 51 | c.300 others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(44): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 432 | 0.0023 | 51 | c.300 others(64): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HCN1_chr5_45249948_45701380 | 45372072 | T | TATAATAT others(44): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0050 | 2 | 226 | 0.0089 | 51 | c.123 others(72): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar |