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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6046): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 188 | 0.0053 | 6053 | c.406 others(6070): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6046): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01261.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0038others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0005g0155 others(2): Show |
5 | 188 | 0.0266 | 6053 | c.406 others(6070): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6046): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 188 | 0.0053 | 6053 | c.406 others(6070): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FETUB_chr3_186635399_186658141 | 186654334 | G | GAGAAAAT others(6047): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 459 | 0.0022 | 6054 | c.*17 others(6065): Show |
FETUB | ENSG00000090512.12 | transcript | ENST00000265029.8 | protein_coding | 1194 | chr3 | TogoVar | |||||||
FETUB_chr3_186635399_186658141 | 186654334 | G | GAGAAAAT others(6047): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 459 | 0.0022 | 6054 | c.*17 others(6065): Show |
FETUB | ENSG00000090512.12 | transcript | ENST00000265029.8 | protein_coding | 1194 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7979380 | C | CAGAAATA others(6047): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0201 | 1 | 416 | 0.0024 | 6054 | c.457 others(6071): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7979380 | C | CAGAAATA others(6047): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0004t0010a0001c0004t0027 | a0001c0001t0010g0213 a0001c0004t0010g0211 a0001c0004t0010g0212 others(2): Show |
6 | 416 | 0.0144 | 6054 | c.457 others(6071): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02132.hp1 HG02630.hp1 others(12): Show |
a0001a0004a0008 | a0001c0001a0001c0007a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0089 others(12): Show |
15 | 162 | 0.0926 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0074 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0103 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6047): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418758 | G | GAAAATAA others(6047): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0013 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418758 | G | GAAAATAA others(6047): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG02922.hp2 others(7): Show |
a0002a0006a0007 | a0002c0002a0006c0006a0007c0017 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(3): Show | a0002c0002t0001g0052 a0002c0002t0001g0062 a0002c0002t0001g0063 others(7): Show |
10 | 162 | 0.0617 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418758 | G | GAAAATAA others(6047): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25418758 | G | GAAAATAA others(6047): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0084 | 1 | 162 | 0.0062 | 6054 | c.133 others(6073): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6047): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 252 | 0.0040 | 6054 | c.527 others(6071): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28571756 | A | AACTGTCT others(6047): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 62 | 0.0161 | 6054 | c.-31 others(6075): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6047): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0091 | 1 | 156 | 0.0064 | 6054 | c.-12 others(6073): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 68317509 | T | TAAGAAAT others(6047): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0002g0027 |
2 | 84 | 0.0238 | 6054 | c.853 others(6073): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68317509 | T | TAAGAAAT others(6047): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 |
2 | 84 | 0.0238 | 6054 | c.853 others(6073): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68317509 | T | TAAGAAAT others(6047): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 84 | 0.0119 | 6054 | c.853 others(6073): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0087 | a0002c0087t0001 | a0002c0087t0001g0039 | 1 | 154 | 0.0065 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0049 | 1 | 154 | 0.0065 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03486.hp2 HG03516.hp1 |
a0001a0043 | a0001c0014a0001c0121a0043c0024 | a0001c0014t0002a0001c0121t0002a0043c0024t0001 | a0001c0014t0002g0015 a0001c0121t0002g0121 a0043c0024t0001g0109 |
3 | 154 | 0.0195 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0072 | a0007c0072t0004 | a0007c0072t0004g0045 | 1 | 154 | 0.0065 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0024 | a0024c0075 | a0024c0075t0002 | a0024c0075t0002g0141 | 1 | 154 | 0.0065 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6047): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0006 | a0006c0097 | a0006c0097t0001 | a0006c0097t0001g0081 | 1 | 154 | 0.0065 | 6054 | c.765 others(6071): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146304129 | T | TAAGAAGT others(6047): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 244 | 0.0041 | 6054 | c.555 others(6071): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6047): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG01515.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0164 others(5): Show |
8 | 188 | 0.0426 | 6054 | c.406 others(6071): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6047): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 188 | 0.0053 | 6054 | c.406 others(6071): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6047): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 188 | 0.0053 | 6054 | c.406 others(6071): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29422288 | T | TCCTGACT others(6048): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0004 | a0005c0013t0004g0050 | 1 | 80 | 0.0125 | 6055 | c.115 others(6076): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29422288 | T | TCCTGACT others(6048): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0018 | 1 | 80 | 0.0125 | 6055 | c.115 others(6076): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
DDX10_chr11_108660069_108945927 | 108838087 | T | TAAGATAT others(6048): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 320 | 0.0031 | 6055 | c.196 others(6072): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7979380 | C | CAGAAATA others(6048): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0210 | 1 | 416 | 0.0024 | 6055 | c.457 others(6072): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25288005 | T | TAACTTTT others(6048): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001a0002c0002t0010 | a0001c0001t0010g0160 a0002c0002t0001g0093 a0002c0002t0010g0159 |
3 | 162 | 0.0185 | 6055 | c.100 others(6076): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25288005 | T | TAACTTTT others(6048): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 162 | 0.0062 | 6055 | c.100 others(6076): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6048): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0007 | a0007c0016 | a0007c0016t0051 | a0007c0016t0051g0112 | 1 | 156 | 0.0064 | 6055 | c.-12 others(6074): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7385955 | T | TTTATTTA others(6048): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 68 | 0.0147 | 6055 | c.28- others(6074): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7385955 | T | TTTATTTA others(6048): Show |
intron_variant | MODIFIER | HG03490.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0061 |
2 | 234 | 0.0086 | 6055 | c.87+ others(6072): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0046 | a0046c0110 | a0046c0110t0005 | a0046c0110t0005g0040 | 1 | 154 | 0.0065 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0028 | a0005c0028t0003 | a0005c0028t0003g0086 | 1 | 154 | 0.0065 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 NA18946.hp1 |
a0001a0004a0030 | a0001c0009a0004c0068a0030c0100 | a0001c0009t0002a0004c0068t0001a0030c0100t0001 | a0001c0009t0002g0132 a0004c0068t0001g0033 a0030c0100t0001g0021 |
3 | 154 | 0.0195 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0099 | 1 | 154 | 0.0065 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63204093 | T | TCATTCAT others(6048): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0011 | a0006c0011t0009 | a0006c0011t0009g0123 | 1 | 266 | 0.0038 | 6055 | c.769 others(6072): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0067 | 1 | 188 | 0.0053 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18747.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040a0001c0001t0043 | a0001c0001t0001g0083 a0001c0001t0040g0162 a0001c0001t0043g0152 |
3 | 188 | 0.0160 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0145 | 1 | 188 | 0.0053 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |