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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERAP2_chr5_96871500_96924703 | 96887100 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(188): Show |
a0000a0001a0002others(9): Show | a0000c0010a0001c0001a0001c0007others(14): Show | a0000c0010t0014a0001c0001t0001a0001c0001t0008others(23): Show | a0000c0010t0014g0026a0001c0001t0001g0005a0001c0001t0001g0006others(161): Show | 191 | 398 | 0.4799 | -6 | c.849 others(21): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAP2_chr5_96871500_96924703 | 96889831 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001a0010 | a0001c0001a0001c0004a0010c0015 | a0001c0001t0001a0001c0004t0022a0001c0004t0030others(1): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143others(15): Show | 18 | 398 | 0.0452 | -6 | c.970 others(21): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAS_chrX_48821513_48834869 | 48834779 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(36): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(5): Show | 39 | 308 | 0.1266 | -6 | c.*49 others(17): Show |
ERAS | ENSG00000187682.2 | transcript | ENST00000636362.1 | protein_coding | 4911 | chrX | TogoVar | ||||||
ERAS_chrX_48821513_48834869 | 48834816 | CACACAG | C | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 308 | 0.0033 | -6 | c.*49 others(17): Show |
ERAS | ENSG00000187682.2 | transcript | ENST00000636362.1 | protein_coding | 4948 | chrX | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39695704 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01943.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(5): Show | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0110others(8): Show | 11 | 318 | 0.0346 | -6 | c.-45 others(17): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56076744 | AGAGGGG | A | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02083.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014 | a0001c0001t0002g0014a0001c0001t0003g0163a0001c0001t0014g0014 | 3 | 392 | 0.0077 | -6 | c.-35 others(17): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 3420 | chr12 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211393740 | CGTGTGT | C | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0025a0001c0001t0003g0017a0001c0001t0003g0040others(5): Show | 8 | 56 | 0.1429 | -6 | c.313 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211414500 | TAAAAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0016others(39): Show | 42 | 56 | 0.7500 | -6 | c.313 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211438989 | AGTGTGT | A | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0021a0001c0001t0006g0039a0001c0001t0011g0041others(2): Show | 5 | 56 | 0.0893 | -6 | c.248 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211550707 | AATATAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0004g0003a0001c0001t0004g0033a0001c0001t0007g0018others(4): Show | 7 | 56 | 0.1250 | -6 | c.248 others(27): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211701756 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01192.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0047others(5): Show | 8 | 56 | 0.1429 | -6 | c.148 others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211721620 | CATATAT | C | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0025others(18): Show | 21 | 56 | 0.3750 | -6 | c.883 others(21): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211741452 | TACACAC | T | intron_variant | MODIFIER | HG02895.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001 | a0001c0001t0019g0002a0001c0002t0001g0036 | 2 | 56 | 0.0357 | -6 | c.622 others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211759806 | AGTGTGT | A | intron_variant | MODIFIER | HG01069.hp2 HG01496.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001 | a0001c0001t0008g0004a0001c0002t0001g0030 | 2 | 56 | 0.0357 | -6 | c.557 others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772908 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0002g0016a0001c0001t0008g0013a0001c0002t0001g0031others(1): Show | 4 | 56 | 0.0714 | -6 | c.556 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211839152 | AAGGAGG | A | intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0047a0001c0001t0004g0033others(2): Show | 5 | 56 | 0.0893 | -6 | c.422 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211850408 | AATATAT | A | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0047others(2): Show | 5 | 56 | 0.0893 | -6 | c.422 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211900373 | AACACAC | A | intron_variant | MODIFIER | HG01069.hp1 HG02717.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0025a0001c0001t0003g0017a0001c0001t0004g0008others(4): Show | 7 | 56 | 0.1250 | -6 | c.421 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211913617 | ATATGTG | A | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0001 | a0001c0001t0026g0052a0001c0002t0001g0036 | 2 | 56 | 0.0357 | -6 | c.421 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211929261 | GTGTGAC | G | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004a0001c0001t0008g0013 | 2 | 56 | 0.0357 | -6 | c.421 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211948436 | CAAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0033a0001c0001t0007g0018a0001c0001t0008g0013others(5): Show | 8 | 56 | 0.1429 | -6 | c.235 others(21): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211956029 | AGTGTGT | A | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0002g0032a0001c0001t0002g0047a0001c0001t0007g0018others(3): Show | 6 | 56 | 0.1071 | -6 | c.235 others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212064988 | GGTGTGT | G | intron_variant | MODIFIER | HG01069.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0007g0018a0001c0001t0011g0042a0001c0001t0020g0028others(2): Show | 5 | 56 | 0.0893 | -6 | c.234 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212113573 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01175.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0002g0016a0001c0001t0002g0032a0001c0001t0005g0015others(9): Show | 12 | 56 | 0.2143 | -6 | c.234 others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212233963 | TTTATTA | T | intron_variant | MODIFIER | HG01069.hp1 HG01496.hp1 HG02615.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021a0001c0001t0002g0016a0001c0001t0002g0025others(12): Show | 15 | 56 | 0.2679 | -6 | c.83- others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212286594 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0024a0001c0001t0004g0003a0001c0001t0004g0011others(3): Show | 6 | 56 | 0.1071 | -6 | c.83- others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212310609 | ATGTGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0021a0001c0001t0002g0024a0001c0001t0002g0025others(10): Show | 13 | 56 | 0.2321 | -6 | c.83- others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212310641 | GTGTATA | G | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047a0001c0002t0001g0048 | 2 | 56 | 0.0357 | -6 | c.83- others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212349287 | TCACACA | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0003g0049a0001c0001t0009g0023a0001c0001t0010g0022others(2): Show | 5 | 56 | 0.0893 | -6 | c.82+ others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212361576 | TAGTAGA | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0021a0001c0001t0002g0024a0001c0001t0009g0023others(5): Show | 8 | 56 | 0.1429 | -6 | c.82+ others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212364914 | AGTGTGT | A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0021a0001c0001t0002g0024a0001c0001t0009g0023others(6): Show | 9 | 56 | 0.1607 | -6 | c.82+ others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212374053 | TATATCC | T | intron_variant | MODIFIER | HG01069.hp1 HG03195.hp1 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0049a0001c0001t0005g0044a0001c0001t0010g0005others(2): Show | 5 | 56 | 0.0893 | -6 | c.82+ others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212398102 | ATGTGTG | A | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01192.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0024others(40): Show | 43 | 56 | 0.7679 | -6 | c.82+ others(25): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446585 | ATATATG | A | intron_variant | MODIFIER | HG02809.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0050a0001c0001t0023g0012 | 2 | 56 | 0.0357 | -6 | c.82+ others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212464892 | TCACACA | T | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0002g0016a0001c0001t0003g0017others(8): Show | 11 | 56 | 0.1964 | -6 | c.82+ others(23): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65957223 | TATTTTA | T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0004a0004c0005t0025 | a0004c0005t0004g0013a0004c0005t0004g0014a0004c0005t0004g0015others(5): Show | 8 | 306 | 0.0261 | -6 | c.-58 others(25): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65964908 | TTGTGTG | T | intron_variant | MODIFIER | HG01071.hp2 HG01256.hp2 HG01891.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001a0003c0004t0017 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0041others(19): Show | 22 | 306 | 0.0719 | -6 | c.-57 others(25): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65997927 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0007a0004c0005t0004g0008a0004c0005t0004g0009others(13): Show | 16 | 306 | 0.0523 | -6 | c.307 others(23): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66007426 | ATATACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(193): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0007a0001c0020others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | 306 | 0.6405 | -6 | c.308 others(23): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTG | C | intron_variant | MODIFIER | HG03041.hp2 NA18961.hp1 NA18991.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0028others(1): Show | a0001c0001t0001g0090a0001c0001t0001g0095a0001c0001t0009g0039others(3): Show | 6 | 306 | 0.0196 | -6 | c.363 others(25): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66077759 | TACACAC | T | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02896.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0007 | a0005c0006t0002g0229a0005c0006t0002g0263a0005c0006t0007g0026others(1): Show | 4 | 306 | 0.0131 | -6 | c.413 others(23): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1001853 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0050a0001c0001t0061a0001c0001t0062others(4): Show | a0001c0001t0050g0144a0001c0001t0061g0153a0001c0001t0062g0147others(4): Show | 7 | 162 | 0.0432 | -6 | c.-15 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1004806 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG02155.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0077a0001c0001t0117others(4): Show | a0001c0001t0013g0015a0001c0001t0077g0012a0001c0001t0117g0001others(4): Show | 7 | 162 | 0.0432 | -6 | c.-15 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1007460 | TTCTCTC | T | intron_variant | MODIFIER | HG02735.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0045a0001c0001t0126a0002c0002t0036others(1): Show | a0001c0001t0045g0066a0001c0001t0126g0030a0002c0002t0036g0158others(1): Show | 4 | 162 | 0.0247 | -6 | c.-15 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1024914 | AATAAGT | A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02809.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0074a0002c0002t0037others(1): Show | a0001c0001t0005g0041a0001c0001t0074g0039a0002c0002t0037g0042others(1): Show | 4 | 162 | 0.0247 | -6 | c.-15 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1065480 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(20): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0008a0001c0001t0020a0001c0001t0021others(20): Show | a0001c0001t0008g0086a0001c0001t0020g0113a0001c0001t0021g0116others(20): Show | 23 | 162 | 0.1420 | -6 | c.670 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1081958 | GTTAATA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(17): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(17): Show | a0001c0001t0003g0035a0001c0001t0020g0113a0001c0001t0021g0116others(17): Show | 20 | 162 | 0.1235 | -6 | c.670 others(23): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1082503 | TTTTAAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(15): Show | a0001c0001t0003g0035a0001c0001t0020g0113a0001c0001t0021g0116others(15): Show | 18 | 162 | 0.1111 | -6 | c.670 others(21): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1085082 | ATTGTTG | A | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0085a0002c0002t0127 | a0002c0002t0085g0142a0002c0002t0127g0155 | 2 | 162 | 0.0124 | -6 | c.108 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1085484 | ATTATTG | A | intron_variant | MODIFIER | HG01346.hp1 HG02572.hp2 HG02615.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0001c0001t0049a0002c0002t0005others(1): Show | a0001c0001t0040g0150a0001c0001t0049g0157a0002c0002t0005g0133others(1): Show | 4 | 162 | 0.0247 | -6 | c.108 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |