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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPX_chr17_58187726_58210174 | 58196029 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0073 | 1 | 404 | 0.0025 | -14 | c.801 others(29): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG02015.hp1 others(9): Show |
a0001a0005a0011 | a0001c0001a0005c0006a0005c0016others(1): Show | a0001c0001t0002a0005c0006t0001a0005c0006t0002others(2): Show | a0001c0001t0002g0125a0005c0006t0001g0006a0005c0006t0001g0084others(4): Show | 12 | 404 | 0.0297 | -14 | c.194 others(31): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ERAP1_chr5_96769484_96812945 | 96783818 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp2 others(60): Show |
a0003a0006a0015others(1): Show | a0003c0003a0006c0006a0006c0033others(4): Show | a0003c0003t0001a0003c0003t0003a0006c0006t0004others(7): Show | a0003c0003t0001g0015a0003c0003t0001g0185a0003c0003t0001g0188others(48): Show | 63 | 416 | 0.1514 | -14 | c.210 others(30): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96783842 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(80): Show |
a0002a0004a0005others(5): Show | a0002c0002a0004c0004a0005c0005others(6): Show | a0002c0002t0001a0002c0002t0021a0004c0004t0001others(11): Show | a0002c0002t0001g0228a0002c0002t0001g0231a0002c0002t0001g0247others(72): Show | 83 | 416 | 0.1995 | -14 | c.210 others(29): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00741.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0003others(4): Show | a0001c0001t0002g0110a0002c0002t0001g0001a0002c0002t0001g0229others(13): Show | 17 | 416 | 0.0409 | -14 | c.-35 others(23): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96874166 | GAAAGAAA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 398 | 0.0025 | -14 | c.-24 others(25): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2333 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96891506 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006a0001c0004t0007others(5): Show | a0001c0001t0001g0218a0001c0001t0001g0220a0001c0001t0001g0221others(22): Show | 25 | 398 | 0.0628 | -14 | c.971 others(29): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBB2_chr17_39695064_39733658 | 39695704 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG03017.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087a0001c0001t0002g0088a0001c0001t0002g0089others(2): Show | 5 | 318 | 0.0157 | -14 | c.-45 others(25): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211392558 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0026a0001c0001t0006g0039a0001c0001t0025g0051 | 3 | 56 | 0.0536 | -14 | c.313 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211431604 | AATTATAC others(7): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0039a0001c0001t0025g0051 | 2 | 56 | 0.0357 | -14 | c.248 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211485205 | TACAAATC others(7): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 56 | 0.0179 | -14 | c.248 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622986 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 56 | 0.0179 | -14 | c.220 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622990 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0034 | 1 | 56 | 0.0179 | -14 | c.220 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211682050 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0009 | 1 | 56 | 0.0179 | -14 | c.149 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211716362 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 56 | 0.0179 | -14 | c.884 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211731421 | GAGGTTTG others(7): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 56 | 0.0179 | -14 | c.623 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772824 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0042 | 1 | 56 | 0.0179 | -14 | c.556 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211773598 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 56 | 0.0179 | -14 | c.556 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211929258 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 56 | 0.0179 | -14 | c.421 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211958907 | ATTCTCTT others(7): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0003g0040a0001c0001t0005g0015others(3): Show | 6 | 56 | 0.1071 | -14 | c.235 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212015099 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 56 | 0.0179 | -14 | c.235 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212240637 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 56 | 0.0179 | -14 | c.83- others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018466 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG03834.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0118 | 2 | 306 | 0.0065 | -14 | c.534 others(31): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018480 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024 | a0001c0001t0006g0153a0001c0001t0006g0155a0001c0001t0006g0157others(1): Show | 4 | 306 | 0.0131 | -14 | c.534 others(31): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(22): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0004a0003c0025others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0045others(22): Show | 25 | 306 | 0.0817 | -14 | c.363 others(33): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66074045 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0254 | 1 | 306 | 0.0033 | -14 | c.375 others(31): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1004806 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0019a0001c0001t0020a0001c0001t0021others(23): Show | a0001c0001t0019g0120a0001c0001t0020g0113a0001c0001t0021g0116others(24): Show | 27 | 162 | 0.1667 | -14 | c.-15 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1004836 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 162 | 0.0062 | -14 | c.-15 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1007538 | CTCTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0005 | 1 | 162 | 0.0062 | -14 | c.-15 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1007540 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(27): Show | a0001c0001t0003g0029a0001c0001t0003g0035a0001c0001t0008g0010others(32): Show | 35 | 162 | 0.2161 | -14 | c.-15 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1051529 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(29): Show | a0001c0001t0003g0029a0001c0001t0003g0035a0001c0001t0008g0010others(34): Show | 37 | 162 | 0.2284 | -14 | c.669 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1065480 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0095a0002c0002t0131 | a0001c0001t0095g0019a0002c0002t0131g0065 | 2 | 162 | 0.0124 | -14 | c.670 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1119556 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01081.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0001g0076a0001c0001t0003g0029a0001c0001t0003g0035others(43): Show | 46 | 162 | 0.2840 | -14 | c.156 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121971 | ATCTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0153 | 1 | 162 | 0.0062 | -14 | c.156 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1143329 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0131 | a0002c0002t0038g0082a0002c0002t0131g0065 | 2 | 162 | 0.0124 | -14 | c.173 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1180270 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0050 | 1 | 162 | 0.0062 | -14 | c.173 others(31): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196905 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0049a0001c0001t0062others(3): Show | a0001c0001t0004g0075a0001c0001t0049g0157a0001c0001t0062g0147others(3): Show | 6 | 162 | 0.0370 | -14 | c.235 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196949 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0156 | 1 | 162 | 0.0062 | -14 | c.235 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196951 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG03927.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0086a0001c0001t0108others(2): Show | a0001c0001t0011g0034a0001c0001t0086g0060a0001c0001t0108g0064others(2): Show | 5 | 162 | 0.0309 | -14 | c.235 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196953 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0098 | a0002c0002t0098g0045 | 1 | 162 | 0.0062 | -14 | c.235 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1214661 | TACATACA others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0001c0001t0021a0001c0001t0023others(4): Show | a0001c0001t0020g0113a0001c0001t0021g0116a0001c0001t0023g0162others(4): Show | 7 | 162 | 0.0432 | -14 | c.235 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1225449 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044a0001c0001t0007g0048 | 2 | 162 | 0.0124 | -14 | c.235 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1284265 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG02922.hp2 HG03654.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0068a0002c0002t0036 | a0001c0001t0013g0015a0001c0001t0068g0083a0002c0002t0036g0158 | 3 | 162 | 0.0185 | -14 | c.262 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1284296 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 162 | 0.0062 | -14 | c.262 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1289084 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0071a0001c0001t0130a0001c0001t0133others(2): Show | a0001c0001t0071g0074a0001c0001t0130g0102a0001c0001t0133g0094others(2): Show | 5 | 162 | 0.0309 | -14 | c.262 others(31): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1304779 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0076 | a0002c0002t0002g0087a0002c0002t0002g0089a0002c0002t0002g0090others(2): Show | 5 | 162 | 0.0309 | -14 | c.278 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1341069 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(36): Show | a0001c0001t0003g0029a0001c0001t0004g0075a0001c0001t0013g0015others(36): Show | 39 | 162 | 0.2407 | -14 | c.278 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1373789 | GAAGAAAA others(7): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0001g0080a0001c0001t0003g0029a0001c0001t0004g0075others(45): Show | 48 | 162 | 0.2963 | -14 | c.292 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1393607 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02280.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0120a0001c0001t0133others(2): Show | a0001c0001t0011g0034a0001c0001t0120g0024a0001c0001t0133g0094others(2): Show | 5 | 162 | 0.0309 | -14 | c.292 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1394032 | AACAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 NA20805.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0033a0002c0002t0018a0006c0009t0025 | a0001c0001t0033g0111a0002c0002t0018g0117a0006c0009t0025g0110 | 3 | 162 | 0.0185 | -14 | c.292 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |