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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDCD6_chr5_266646_319974 | 309783 | T | TGGCCGCC others(1029): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 360 | 0.0028 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1029): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0033a0001c0001t0041others(1): Show | a0001c0001t0008g0025a0001c0001t0008g0033a0001c0001t0008g0041others(7): Show | 10 | 288 | 0.0347 | 1036 | c.127 others(1053): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1029): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0159 | 1 | 302 | 0.0033 | 1036 | c.533 others(1053): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1029): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0048 | 1 | 302 | 0.0033 | 1036 | c.533 others(1053): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273519 | C | CTTCAGGG others(1029): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0074 | 1 | 133 | 0.0075 | 1036 | c.438 others(1053): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 133 | 0.0075 | 1036 | c.351 others(1055): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0095 | 1 | 203 | 0.0049 | 1036 | c.167 others(1051): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(1029): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 203 | 0.0049 | 1036 | c.167 others(1051): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1029): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 186 | 0.0054 | 1036 | c.-50 others(1047): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377549 | T | TCTGTGCC others(1029): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 370 | 0.0027 | 1036 | c.-15 others(1047): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1524 | chr19 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1480799 | C | CCTCCTTC others(1029): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0116 | 1 | 130 | 0.0077 | 1036 | c.133 others(1055): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(1029): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 1036 | c.*29 others(1047): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 360 | 0.0028 | 1036 | c.*24 others(1047): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1029): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18945.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0041a0002c0005t0001g0059 | 2 | 228 | 0.0088 | 1036 | c.127 others(1053): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1029): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0009 | 1 | 228 | 0.0044 | 1036 | c.127 others(1053): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293860 | G | GTGCCCGG others(1029): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 404 | 0.0025 | 1036 | c.340 others(1053): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294378 | G | ATGCCCGG others(1029): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0339 | 1 | 404 | 0.0025 | 1036 | c.340 others(1053): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294452 | G | GTGCCCGG others(1029): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0334 | 1 | 404 | 0.0025 | 1036 | c.340 others(1053): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACAC others(1029): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 404 | 0.0025 | 1036 | c.340 others(1053): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1029): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 404 | 0.0025 | 1036 | c.340 others(1053): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1030): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0100 | 1 | 248 | 0.0040 | 1037 | c.387 others(1056): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1030): Show |
3_prime_UTR_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0080 | a0001c0002t0080g0031 | 1 | 350 | 0.0029 | 1037 | c.*23 others(1048): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1030): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01515.hp2 HG01952.hp2 others(1): Show |
a0002a0005 | a0002c0003a0005c0013 | a0002c0003t0001a0005c0013t0001 | a0002c0003t0001g0006a0005c0013t0001g0006 | 4 | 342 | 0.0117 | 1037 | c.578 others(1050): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1030): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 334 | 0.0030 | 1037 | c.147 others(1054): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1030): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 318 | 0.0031 | 1037 | c.285 others(1056): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1030): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0127 | 1 | 318 | 0.0031 | 1037 | c.285 others(1056): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1030): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 318 | 0.0031 | 1037 | c.285 others(1056): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1030): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0004 | a0003c0004t0018 | a0003c0004t0018g0205 | 1 | 318 | 0.0031 | 1037 | c.285 others(1056): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1030): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 432 | 0.0023 | 1037 | c.413 others(1054): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1030): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0042a0001c0001t0001g0132others(22): Show | 25 | 432 | 0.0579 | 1037 | c.413 others(1054): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1030): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0013 | 1 | 236 | 0.0042 | 1037 | c.342 others(1058): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1030): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0064 | a0064c0060 | a0064c0060t0001 | a0064c0060t0001g0021 | 1 | 278 | 0.0036 | 1037 | c.328 others(1054): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203051 | T | TGGGGGGG others(1030): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 290 | 0.0035 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1030): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01168.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0001c0001t0006a0005c0006t0006 | a0001c0001t0004g0191a0001c0001t0006g0158a0001c0001t0006g0178others(2): Show | 5 | 290 | 0.0172 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1030): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01358.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0187a0001c0001t0001g0220a0001c0001t0001g0249others(27): Show | 30 | 290 | 0.1035 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1030): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 290 | 0.0035 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1030): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0205 | 3 | 290 | 0.0103 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1030): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173a0001c0001t0002g0188 | 2 | 290 | 0.0069 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1030): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03491.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0228a0001c0001t0003g0229a0001c0001t0003g0231others(1): Show | 4 | 290 | 0.0138 | 1037 | c.162 others(1056): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1030): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 374 | 0.0027 | 1037 | c.*14 others(1048): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1030): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0049 | 1 | 408 | 0.0025 | 1037 | c.-14 others(1056): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574424 | G | ATGGAGGC others(1030): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02055.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0252a0001c0001t0002g0286a0001c0001t0005g0359others(1): Show | 4 | 418 | 0.0096 | 1037 | c.119 others(1056): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1030): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 384 | 0.0026 | 1037 | c.467 others(1052): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1030): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 384 | 0.0026 | 1037 | c.467 others(1052): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(1030): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0148 | a0001c0001t0004g0106a0001c0001t0148g0149 | 2 | 300 | 0.0067 | 1037 | c.203 others(1054): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(1030): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0199 | 1 | 330 | 0.0030 | 1037 | c.430 others(1052): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(1030): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0092 | a0092c0023 | a0092c0023t0001 | a0092c0023t0001g0009 | 1 | 186 | 0.0054 | 1037 | c.450 others(1054): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1030): Show |
intron_variant | MODIFIER | NA18959.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0033 | a0001c0001t0006g0009a0001c0001t0033g0008 | 2 | 108 | 0.0185 | 1037 | c.648 others(1056): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1030): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 108 | 0.0093 | 1037 | c.648 others(1056): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1030): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0066 | 1 | 108 | 0.0093 | 1037 | c.648 others(1056): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |