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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDARADD_chr1_236389286_236489930 | 236471395 | ATTCCAAT others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0002others(2): Show | a0001c0001t0002g0117a0001c0001t0002g0152a0001c0001t0002g0154others(13): Show | 16 | 294 | 0.0544 | -11 | c.265 others(28): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDAR_chr2_108889471_108994220 | 108914264 | AAAAAATA others(4): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0136 | 1 | 226 | 0.0044 | -11 | c.443 others(28): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108950226 | TTCCTCCC others(4): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02698.hp1 HG03831.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(3): Show | a0001c0002t0017a0001c0004t0003a0001c0006t0010others(3): Show | a0001c0002t0017g0012a0001c0004t0003g0016a0001c0006t0010g0011others(5): Show | 8 | 226 | 0.0354 | -11 | c.-18 others(30): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74677359 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 286 | 0.0035 | -11 | c.-18 others(28): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
EDDM3A_chr14_20740887_20753380 | 20748931 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01123.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0029 | 5 | 446 | 0.0112 | -11 | c.*90 others(20): Show |
EDDM3A | ENSG00000181562.5 | transcript | ENST00000326842.3 | protein_coding | 552 | chr14 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184704649 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18983.hp1 NA19001.hp2 |
a0004 | a0004c0006 | a0004c0006t0014 | a0004c0006t0014g0283a0004c0006t0014g0284a0004c0006t0014g0285 | 3 | 324 | 0.0093 | -11 | c.220 others(30): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EDF1_chr9_136857119_136871308 | 136869497 | CTTTTTCT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 378 | 0.0053 | -11 | c.-32 others(22): Show |
EDF1 | ENSG00000107223.13 | transcript | ENST00000224073.6 | protein_coding | 3190 | chr9 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84132381 | AATATATT others(4): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0061a0001c0001t0004g0124a0001c0001t0005g0148others(4): Show | 7 | 158 | 0.0443 | -11 | c.469 others(28): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84176187 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0003a0001c0001t0003g0078a0001c0002t0001g0144 | 3 | 158 | 0.0190 | -11 | c.355 others(28): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84357887 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0002g0034others(3): Show | 6 | 158 | 0.0380 | -11 | c.67+ others(28): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03239.hp1 HG03654.hp1 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0145a0001c0001t0003g0146a0001c0002t0002g0147 | 3 | 280 | 0.0107 | -11 | c.421 others(30): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDRF1_chr10_125714709_125769139 | 125754554 | CAGAAGCA others(4): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 322 | 0.0031 | -11 | c.354 others(28): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92814803 | AGGAAGTA others(4): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0107 | 1 | 244 | 0.0041 | -11 | c.192 others(30): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 15/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92856767 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG03471.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0020a0002c0003t0004 | a0001c0002t0020g0122a0001c0002t0020g0123a0002c0003t0004g0168 | 3 | 244 | 0.0123 | -11 | c.366 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 5/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92869752 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 244 | 0.0041 | -11 | c.118 others(28): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92895133 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01167.hp1 others(27): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0035a0002c0003t0002a0002c0003t0004others(3): Show | a0001c0002t0035g0188a0002c0003t0002g0001a0002c0003t0002g0144others(26): Show | 30 | 244 | 0.1230 | -11 | c.25- others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916973 | CAACTGGA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 244 | 0.0041 | -11 | c.24+ others(28): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795595 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 358 | 0.0028 | -11 | c.-37 others(22): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3709 | chr10 | TogoVar | ||||||
EEF1B2_chr2_206154895_206167928 | 206157009 | GTGCAATG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | -11 | c.-29 others(22): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 2885 | chr2 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8092868 | GCTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 442 | 0.0023 | -11 | c.289 others(28): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8099780 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 442 | 0.0023 | -11 | c.88- others(26): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101244 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01074.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(14): Show | 29 | 442 | 0.0656 | -11 | c.87+ others(26): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22217160 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 290 | 0.0035 | -11 | c.-76 others(28): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2_chr19_3971056_3990463 | 3978803 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 403 | 0.0025 | -11 | c.171 others(28): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128150617 | ATATATTC others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0008a0001c0002t0001g0012a0001c0002t0001g0015others(6): Show | 9 | 272 | 0.0331 | -11 | c.-28 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2863 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128150830 | TTATATAT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 272 | 0.0037 | -11 | c.-26 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2650 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128151111 | GTATATAT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 272 | 0.0037 | -11 | c.-23 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2369 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128229953 | CTTTCCTT others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02148.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0217a0001c0001t0001g0228a0001c0002t0001g0019others(1): Show | 4 | 272 | 0.0147 | -11 | c.317 others(30): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36249271 | GTGAAGTT others(4): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0019 | 1 | 346 | 0.0029 | -11 | c.930 others(30): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36274699 | TCCCTCCA others(4): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0002 | a0003c0002t0034 | a0003c0002t0034g0071 | 1 | 346 | 0.0029 | -11 | c.931 others(28): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36282957 | ATGTTCAA others(4): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0305 | 1 | 346 | 0.0029 | -11 | c.104 others(30): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36287236 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 | 1 | 346 | 0.0029 | -11 | c.117 others(28): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105570241 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 428 | 0.0023 | -11 | c.107 others(26): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129400120 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0111a0001c0001t0001g0166a0001c0001t0001g0177others(3): Show | 6 | 386 | 0.0155 | -11 | c.*14 others(22): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1200 | chr3 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129432078 | ACAGGGCT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp2 others(59): Show |
a0001a0003a0012 | a0001c0001a0001c0018a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0001others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0037others(44): Show | 62 | 386 | 0.1606 | -11 | c.-36 others(22): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3443 | chr3 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47407744 | TTTTGTTT others(4): Show |
T | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 356 | 0.0028 | -11 | c.223 others(30): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47424874 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(3): Show | 6 | 356 | 0.0169 | -11 | c.249 others(30): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB14_chr1_46670159_46724114 | 46678820 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0022others(3): Show | a0001c0001t0004g0003a0001c0001t0004g0016a0001c0001t0004g0029others(30): Show | 42 | 374 | 0.1123 | -11 | c.131 others(28): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46679599 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG01517.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029 | a0001c0001t0003g0033a0001c0001t0029g0218 | 3 | 374 | 0.0080 | -11 | c.131 others(28): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46714429 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0025others(1): Show | a0001c0001t0006g0012a0001c0001t0006g0111a0001c0001t0006g0112others(7): Show | 12 | 374 | 0.0321 | -11 | c.334 others(28): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46720526 | AAATAAAT others(4): Show |
A | upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 374 | 0.0027 | -11 | c.-24 others(22): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 1413 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245065073 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0120a0001c0001t0001g0123a0001c0001t0001g0155others(8): Show | 11 | 290 | 0.0379 | -11 | c.183 others(28): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01934.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0175others(5): Show | 8 | 248 | 0.0323 | -11 | c.104 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30070949 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp2 NA20129.hp1 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0003a0003c0006t0002g0005 | 2 | 248 | 0.0081 | -11 | c.273 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30096666 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 248 | 0.0040 | -11 | c.432 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43548539 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02723.hp1 HG02965.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0156a0007c0007t0001g0157a0007c0007t0001g0158others(2): Show | 5 | 290 | 0.0172 | -11 | c.364 others(30): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 27/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43589280 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0010 | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0087a0001c0001t0001g0236a0001c0013t0001g0233others(21): Show | 24 | 290 | 0.0828 | -11 | c.303 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43591113 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG01346.hp1 others(13): Show |
a0006a0032 | a0006c0006a0032c0042 | a0006c0006t0001a0032c0042t0001 | a0006c0006t0001g0163a0006c0006t0001g0257a0006c0006t0001g0265others(13): Show | 16 | 290 | 0.0552 | -11 | c.287 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43594275 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0031 | a0031c0022 | a0031c0022t0001 | a0031c0022t0001g0237 | 1 | 290 | 0.0035 | -11 | c.287 others(30): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43740001 | TCCACCTG others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(6): Show |
a0001a0017a0029 | a0001c0001a0017c0025a0029c0031 | a0001c0001t0001a0001c0001t0002a0017c0025t0002others(1): Show | a0001c0001t0001g0083a0001c0001t0002g0006a0001c0001t0002g0007others(6): Show | 9 | 290 | 0.0310 | -11 | c.508 others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 6/31 | chr22 | TogoVar |