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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3047): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 366 | 0.0027 | 3054 | c.781 others(3071): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3047): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0208 | 1 | 350 | 0.0029 | 3054 | c.192 others(3069): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132577223 | A | ATCCAGAT others(3048): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0271 | 1 | 316 | 0.0032 | 3055 | c.177 others(3072): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 15/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132577223 | A | ATCCAGAT others(3048): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0274 | 1 | 316 | 0.0032 | 3055 | c.177 others(3072): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 15/19 | chr3 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(3048): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 236 | 0.0042 | 3055 | c.294 others(3072): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3048): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 236 | 0.0042 | 3055 | c.294 others(3072): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3048): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0008 | 1 | 264 | 0.0038 | 3055 | c.400 others(3074): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3048): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0032 | 1 | 395 | 0.0025 | 3055 | c.*24 others(3066): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3048): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 395 | 0.0025 | 3055 | c.*24 others(3066): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3048): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3055 | c.*24 others(3066): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 366 | 0.0027 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 366 | 0.0027 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 366 | 0.0027 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0197 | 1 | 366 | 0.0027 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 366 | 0.0027 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3048): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0002t0003 | a0001c0001t0003g0196a0001c0001t0003g0209a0001c0001t0012g0029others(1): Show | 4 | 366 | 0.0109 | 3055 | c.781 others(3072): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348426 | A | AGGGAAGG others(3048): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 276 | 0.0036 | 3055 | c.132 others(3072): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3048): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 279 | 0.0036 | 3055 | c.*27 others(3066): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88134247 | C | CCCAGGCT others(3048): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 446 | 0.0022 | 3055 | c.190 others(3070): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132577223 | A | ATCCAGAT others(3049): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0273 | 1 | 316 | 0.0032 | 3056 | c.177 others(3073): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 15/19 | chr3 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949682 | G | GATCTTTT others(3049): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 184 | 0.0054 | 3056 | c.280 others(3077): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3049): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0016 | 1 | 264 | 0.0038 | 3056 | c.400 others(3075): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3049): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 318 | 0.0031 | 3056 | c.-91 others(3077): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949682 | G | GATCTTTT others(3049): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0305 | 1 | 318 | 0.0031 | 3056 | c.-91 others(3077): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 395 | 0.0025 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 395 | 0.0051 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0029 | 2 | 395 | 0.0051 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3049): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3056 | c.*24 others(3067): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0070 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01516.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0156a0001c0001t0001g0158a0001c0001t0003g0314 | 3 | 366 | 0.0082 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02055.hp1 HG02132.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0023 | a0001c0001t0003g0004a0001c0001t0003g0192a0001c0001t0003g0210others(3): Show | 7 | 366 | 0.0191 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0006 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0333 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0360 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0025a0001c0002t0007g0151 | 2 | 366 | 0.0055 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 366 | 0.0027 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3049): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0145a0001c0001t0004g0233 | 2 | 366 | 0.0055 | 3056 | c.781 others(3073): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3049): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 279 | 0.0036 | 3056 | c.*27 others(3067): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3049): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0117a0001c0002t0004g0011 | 2 | 158 | 0.0127 | 3056 | c.284 others(3075): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGAGT others(3049): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 3056 | c.*32 others(3067): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3049): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp1 |
a0001 | a0001c0016 | a0001c0016t0020 | a0001c0016t0020g0092a0001c0016t0020g0093 | 2 | 272 | 0.0074 | 3056 | c.389 others(3075): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3050): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0251 | 1 | 264 | 0.0038 | 3057 | c.400 others(3076): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3050): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0126 | 1 | 264 | 0.0038 | 3057 | c.400 others(3076): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76628646 | C | CGGAGAAG others(3050): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 222 | 0.0045 | 3057 | c.161 others(3076): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 14/35 | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3050): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0189 | 1 | 282 | 0.0036 | 3057 | c.258 others(3074): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |