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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3163): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 158 | 0.0063 | 3170 | c.284 others(3189): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(3163): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 354 | 0.0028 | 3170 | c.9+3 others(3183): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TACCACTG others(3164): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0172 | 1 | 344 | 0.0029 | 3171 | c.127 others(3188): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TACCACTG others(3164): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0003a0001c0006t0002 | a0001c0003t0003g0058a0001c0006t0002g0171 | 2 | 344 | 0.0058 | 3171 | c.127 others(3188): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0227 | 1 | 283 | 0.0035 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(122): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0130a0001c0001t0001g0146a0001c0001t0001g0153others(119): Show | 125 | 283 | 0.4417 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 283 | 0.0035 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0196 | 1 | 283 | 0.0035 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0037a0002c0007t0018 | a0001c0001t0037g0256a0002c0007t0018g0090a0002c0007t0018g0091 | 3 | 283 | 0.0106 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 283 | 0.0035 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3164): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0205 | 1 | 283 | 0.0035 | 3171 | c.148 others(3190): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCGGCG others(3164): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18950.hp1 |
a0003a0037 | a0003c0015a0037c0081 | a0003c0015t0004a0037c0081t0001 | a0003c0015t0004g0060a0037c0081t0001g0088 | 2 | 338 | 0.0059 | 3171 | c.300 others(3188): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3164): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3171 | c.*85 others(3182): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3164): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 264 | 0.0038 | 3171 | c.400 others(3190): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0228 | 1 | 283 | 0.0035 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18946.hp1 NA18948.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0226a0001c0001t0002g0233a0001c0001t0002g0247others(4): Show | 7 | 283 | 0.0247 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00735.hp2 others(32): Show |
a0001a0002a0012 | a0001c0001a0001c0009a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0204a0001c0001t0002g0142a0001c0001t0002g0152others(32): Show | 35 | 283 | 0.1237 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 2 | 283 | 0.0071 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005a0002c0003t0026 | a0001c0001t0004g0139a0002c0003t0005g0135a0002c0003t0026g0103 | 3 | 283 | 0.0106 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3165): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0239a0001c0001t0013g0246 | 2 | 283 | 0.0071 | 3172 | c.148 others(3191): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3165): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0093 | 1 | 175 | 0.0057 | 3172 | c.164 others(3191): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK8_chr9_209865_470255 | 321042 | C | TCAGAGAT others(3165): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0039 | a0039c0052 | a0039c0052t0001 | a0039c0052t0001g0079 | 1 | 256 | 0.0039 | 3172 | c.827 others(3189): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | chr9 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3165): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0128 | 1 | 264 | 0.0038 | 3172 | c.400 others(3191): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBPF9_chr1_149047186_149108551 | 149061657 | A | AGTTCAAA others(3165): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02886.hp2 |
a0007 | a0007c0007 | a0007c0007t0031a0007c0007t0062 | a0007c0007t0031g0157a0007c0007t0031g0158a0007c0007t0062g0159 | 3 | 344 | 0.0087 | 3172 | c.225 others(3189): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 22/29 | chr1 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02074.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0270a0002c0002t0002g0274 | 2 | 302 | 0.0066 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0253 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285a0001c0001t0002g0286a0001c0001t0002g0287 | 3 | 302 | 0.0099 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp2 NA18943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0069a0001c0001t0002g0228a0001c0001t0002g0242others(11): Show | 14 | 302 | 0.0464 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235a0001c0001t0002g0278 | 2 | 302 | 0.0066 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18956.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227a0001c0001t0002g0241a0001c0001t0002g0290others(1): Show | 4 | 302 | 0.0133 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0245a0001c0001t0015g0262 | 2 | 302 | 0.0066 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01167.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0002a0001c0001t0002g0229a0001c0001t0002g0231others(18): Show | 23 | 302 | 0.0762 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3165): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 302 | 0.0033 | 3172 | c.*41 others(3187): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154180619 | A | ACATTTTT others(3166): Show |
intron_variant | MODIFIER | HG01175.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0024 | a0001c0001t0011g0243a0002c0002t0024g0035 | 2 | 283 | 0.0071 | 3173 | c.148 others(3192): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3166): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0058 | 1 | 316 | 0.0032 | 3173 | c.44- others(3186): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3166): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0005 | 2 | 274 | 0.0073 | 3173 | c.179 others(3192): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3166): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 274 | 0.0037 | 3173 | c.179 others(3192): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3166): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 264 | 0.0038 | 3173 | c.400 others(3192): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3166): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0013 | a0013c0135 | a0013c0135t0001 | a0013c0135t0001g0064 | 1 | 186 | 0.0054 | 3173 | c.723 others(3190): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3166): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 408 | 0.0025 | 3173 | c.651 others(3188): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGGAAG others(3167): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 316 | 0.0032 | 3174 | c.44- others(3187): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3167): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0030 | 1 | 184 | 0.0054 | 3174 | c.280 others(3195): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(3167): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 314 | 0.0032 | 3174 | c.-25 others(3191): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3167): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 318 | 0.0031 | 3174 | c.-91 others(3195): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar |