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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2760): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0073 | 1 | 371 | 0.0027 | 2767 | c.96+ others(2782): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2760): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 9 | 0.1111 | 2767 | c.565 others(2784): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43233674 | C | CAGTGTGC others(2760): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0165 | 1 | 181 | 0.0055 | 2767 | c.171 others(2786): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 15/16 | chr13 | TogoVar | |||||||
NDUFA9_chr12_4644114_4699317 | 4693297 | G | GTAATAAT others(2760): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0236 | 1 | 359 | 0.0028 | 2767 | c.*62 others(2778): Show |
NDUFA9 | ENSG00000139180.11 | transcript | ENST00000266544.10 | protein_coding | 11/11 | 6206 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NDUFA9_chr12_4644114_4699317 | 4693297 | G | GTAATAAT others(2760): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0237 | 1 | 359 | 0.0028 | 2767 | c.*62 others(2778): Show |
NDUFA9 | ENSG00000139180.11 | transcript | ENST00000266544.10 | protein_coding | 11/11 | 6206 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2760): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0026 | 1 | 324 | 0.0031 | 2767 | c.117 others(2784): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2760): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 87 | 0.0115 | 2767 | c.773 others(2782): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66782926 | T | TGGTAGTT others(2760): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 398 | 0.0025 | 2767 | c.347 others(2782): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RNF38_chr9_36331400_36405269 | 36396786 | T | TAAAAAAA others(2760): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 399 | 0.0025 | 2767 | c.12+ others(2782): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2760): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19065.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 a0001c0003t0001g0098 |
2 | 275 | 0.0073 | 2767 | c.130 others(2784): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 18 | 0.0556 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 18 | 0.0556 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0319 | 1 | 18 | 0.0556 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 18 | 0.0556 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0312 |
2 | 19 | 0.1053 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 18 | 0.0556 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2760): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19083.hp2 NA19086.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0001g0346 others(1): Show |
4 | 21 | 0.1905 | 2767 | c.372 others(2782): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 197 | 0.0051 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 197 | 0.0051 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 197 | 0.0051 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 197 | 0.0051 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01358.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0158 others(1): Show |
9 | 205 | 0.0439 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01169.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0031 a0004c0007t0001g0074 |
3 | 199 | 0.0151 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2761): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0068 | 1 | 371 | 0.0027 | 2768 | c.96+ others(2783): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGCCC others(2761): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 147 | 0.0068 | 2768 | c.666 others(2783): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(2761): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 257 | 0.0039 | 2768 | c.340 others(2785): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2761): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0232 | 1 | 231 | 0.0043 | 2768 | c.95+ others(2783): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(2761): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 361 | 0.0028 | 2768 | c.-20 others(2779): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2761): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 6 | 0.1667 | 2768 | c.209 others(2783): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2761): Show |
intron_variant | MODIFIER | NA18994.hp2 NA20905.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0013 | a0001c0003t0010g0174 a0001c0003t0013g0025 |
2 | 325 | 0.0062 | 2768 | c.117 others(2785): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2761): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0009 | a0003c0009t0009 | a0003c0009t0009g0039 | 1 | 38 | 0.0263 | 2768 | c.263 others(2789): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGCCC others(2761): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 120 | 0.0083 | 2768 | c.-49 others(2779): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2761): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 254 | 0.0039 | 2768 | c.989 others(2785): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0145 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | NA19012.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 a0001c0001t0001g0308 |
2 | 19 | 0.1053 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0018 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18979.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 a0001c0001t0001g0310 a0001c0001t0001g0374 others(2): Show |
5 | 22 | 0.2273 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0325 a0002c0003t0001g0013 |
2 | 19 | 0.1053 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0239 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2761): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 18 | 0.0556 | 2768 | c.372 others(2783): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2761): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 213 | 0.0047 | 2768 | c.482 others(2783): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2762): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 197 | 0.0051 | 2769 | c.409 others(2786): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2762): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 197 | 0.0051 | 2769 | c.409 others(2786): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2762): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 197 | 0.0051 | 2769 | c.409 others(2786): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2762): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 23 | 0.0435 | 2769 | c.137 others(2786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2762): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 227 | 0.0044 | 2769 | c.-25 others(2786): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2762): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 227 | 0.0044 | 2769 | c.-25 others(2786): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2762): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0173 | 1 | 324 | 0.0031 | 2769 | c.117 others(2786): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar |