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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLCE_chr15_69155635_69277207 | 69240247 | GCACTCCA others(53): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(215): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(208): Show |
218 | 342 | 0.6374 | -60 | c.-13 others(79): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53709357 | TACATATA others(53): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0014others(1): Show | a0001c0001t0005a0001c0001t0018a0004c0004t0003others(5): Show | a0001c0001t0005g0097 a0001c0001t0018g0212 a0004c0004t0003g0015 others(10): Show |
13 | 236 | 0.0551 | -60 | c.259 others(79): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4276411 | GGGAAGGG others(53): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0054 | 1 | 188 | 0.0053 | -60 | c.388 others(77): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021911 | AGAAGAAG others(53): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0316 | 1 | 416 | 0.0024 | -60 | c.-16 others(77): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLYATL3_chr6_49494923_49533078 | 49526875 | TCTCACCC others(53): Show |
T | stop_lost others(1): Show |
HIGH | NA21309.hp2 | a0000 | a0000c0018 | a0000c0018t0014 | a0000c0018t0014g0009 | 1 | 380 | 0.0026 | -60 | c.829 others(67): Show |
p.Leu others(13): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 6/6 | 977/2179 | 829/867 | 277/288 | chr6 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22465755 | GTGTGGAG others(53): Show |
G | conservative_inframe_deletion | MODERATE | NA18747.hp2 | a0025 | a0025c0033 | a0025c0033t0002 | a0025c0033t0002g0001 | 1 | 226 | 0.0044 | -60 | c.153 others(69): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1622/4401 | 1531/2565 | 511/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L9_chr15_82424816_82444153 | 82439519 | TGGAGTCT others(53): Show |
T | downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 455 | 0.0022 | -60 | c.*31 others(71): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 367 | chr15 | TogoVar | |||||||
GOLGA7B_chr10_97844843_97876578 | 97874967 | TTGCTAGG others(53): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 336 | 0.0030 | -60 | c.*92 others(71): Show |
GOLGA7B | ENSG00000155265.12 | transcript | ENST00000370602.6 | protein_coding | 3390 | chr10 | TogoVar | |||||||
GP1BB_chr22_19718539_19729771 | 19725888 | ACCGTGAG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02486.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 |
5 | 410 | 0.0122 | -60 | c.*14 others(71): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 1118 | chr22 | TogoVar | |||||||
GP1BB_chr22_19718539_19729771 | 19725945 | AGGGCGGT others(53): Show |
A | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 410 | 0.0024 | -60 | c.*14 others(71): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 1175 | chr22 | TogoVar | |||||||
GP1BB_chr22_19718539_19729771 | 19726764 | ACGCTGTG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 410 | 0.0098 | -60 | c.*23 others(71): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 1994 | chr22 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83577937 | TTACAGGC others(53): Show |
T | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 334 | 0.0030 | -60 | c.209 others(77): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
GPR139_chr16_20023239_20078890 | 20061178 | AATGGATG others(53): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0172 | 1 | 364 | 0.0028 | -60 | c.127 others(79): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR87_chr3_151289086_151321820 | 151293578 | CACACACA others(53): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0015 others(16): Show |
28 | 446 | 0.0628 | -60 | c.*53 others(69): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 507 | chr3 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46648767 | CATGGATG others(53): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 others(3): Show |
6 | 328 | 0.0183 | -60 | c.284 others(77): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998451 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01106.hp2 others(26): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0001 | a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0050 others(25): Show |
29 | 418 | 0.0694 | -60 | c.167 others(77): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | chr2 | TogoVar | |||||||
GRIN1_chr9_137134154_137173756 | 137145459 | AGTCTAGA others(53): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02280.hp2 HG03017.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0255 others(6): Show |
9 | 298 | 0.0302 | -60 | c.394 others(75): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119394689 | GTGTGTGT others(53): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0025 a0001c0001t0007g0165 |
2 | 202 | 0.0099 | -60 | c.262 others(77): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34044713 | CACACATA others(53): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 282 | 0.0036 | -60 | c.116 others(79): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346502 | GGGAGGAC others(53): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346555 | CAGACCCA others(53): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346591 | CGGGAGGA others(53): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02273.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0002a0002c0014t0001 | a0001c0001t0001g0103 a0001c0001t0001g0218 a0001c0001t0002g0135 others(1): Show |
4 | 288 | 0.0139 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346758 | GAGAGCGG others(53): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346764 | GGACCTGG others(53): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0285 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346824 | AGACCCGG others(53): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346859 | CGGGAGGA others(53): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347065 | TGGGAGGA others(53): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347216 | AGGAGGAC others(53): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 a0001c0001t0003g0266 |
2 | 288 | 0.0069 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347263 | TGAGAGCA others(53): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 |
3 | 288 | 0.0104 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347321 | AGAGAGCA others(53): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347459 | GATCTCTG others(53): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347571 | CAGGAGGA others(53): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347707 | AGAGAGCA others(53): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 288 | 0.0035 | -60 | c.466 others(77): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRXCR1_chr4_42887713_43035658 | 43026440 | GCACTGGG others(53): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0055 others(24): Show |
27 | 338 | 0.0799 | -60 | c.694 others(77): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45281877 | TGCAACAA others(53): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 210 | 0.0048 | -60 | c.631 others(77): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45287803 | CTAAACTT others(53): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 210 | 0.0048 | -60 | c.*42 others(71): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2911 | chr13 | TogoVar | |||||||
H3-4_chr1_228419845_228430360 | 228427002 | CCTTTCTC others(53): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 NA19066.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 414 | 0.0048 | -60 | c.-17 others(71): Show |
H3-4 | ENSG00000168148.4 | transcript | ENST00000366696.2 | protein_coding | 1643 | chr1 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45373658 | ATACGGTA others(53): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 226 | 0.0044 | -60 | c.123 others(81): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375395 | TACATATT others(53): Show |
T | intron_variant | MODIFIER | NA18977.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0024 |
2 | 226 | 0.0089 | -60 | c.123 others(81): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 613572 | CGGGGCCG others(53): Show |
C | intron_variant | MODIFIER | NA19074.hp2 | a0007 | a0007c0106 | a0007c0106t0002 | a0007c0106t0002g0187 | 1 | 408 | 0.0025 | -60 | c.182 others(77): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 613608 | CGGGGATG others(53): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0249 | 1 | 408 | 0.0025 | -60 | c.182 others(77): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37031889 | GCTAGGAA others(53): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(88): Show |
a0001a0010 | a0001c0002a0001c0005a0001c0022others(3): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(7): Show | a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0054 others(88): Show |
91 | 314 | 0.2898 | -60 | c.336 others(77): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 22/35 | chr2 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(53): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01071.hp1 HG01496.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0157 a0001c0001t0001g0159 others(32): Show |
35 | 270 | 0.1296 | -60 | c.178 others(77): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67242500 | CTATACAC others(53): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03654.hp2 |
a0005 | a0005c0007 | a0005c0007t0028 | a0005c0007t0028g0089 a0005c0007t0028g0090 |
2 | 274 | 0.0073 | -60 | c.-76 others(77): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 2/32 | chr17 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28214534 | TCTGAGTG others(53): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0019 | a0019c0069 | a0019c0069t0001 | a0019c0069t0001g0061 | 1 | 250 | 0.0040 | -60 | c.635 others(76): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 40/92 | chr15 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682266 | TATAGATA others(53): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02486.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0156 others(5): Show |
8 | 392 | 0.0204 | -60 | c.148 others(77): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HHIPL1_chr14_99640129_99685569 | 99656832 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0016 | a0001c0002t0020a0002c0001t0005a0002c0016t0039 | a0001c0002t0020g0232 a0002c0001t0005g0171 a0002c0001t0005g0172 others(1): Show |
4 | 374 | 0.0107 | -60 | c.903 others(75): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122850577 | CCTGGTTC others(53): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01175.hp2 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0021a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0021t0001others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 others(18): Show |
21 | 348 | 0.0603 | -60 | c.439 others(75): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75663990 | ATATACAC others(53): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0247 a0002c0004t0001g0005 |
2 | 254 | 0.0079 | -60 | c.121 others(79): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HSD3B2_chr1_119410150_119428034 | 119421393 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(70): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0014 others(6): Show |
73 | 442 | 0.1652 | -60 | c.308 others(75): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |