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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMX2_chr10_117537746_117554546 | 117542345 | AGAGGAGG others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0004 | a0002c0004t0038 | a0002c0004t0038g0042 | 1 | 402 | 0.0025 | -18 | c.-92 others(27): Show |
EMX2 | ENSG00000170370.12 | transcript | ENST00000553456.5 | protein_coding | 400 | chr10 | TogoVar | |||||||
EN1_chr2_118837171_118852648 | 118845628 | CACTGTTT others(11): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0033 | 1 | 442 | 0.0023 | -18 | c.862 others(33): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225519331 | ATCCAGGC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00738.hp1 HG01167.hp1 others(17): Show |
a0002a0006 | a0002c0002a0002c0008a0006c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 others(17): Show |
20 | 308 | 0.0649 | -18 | c.651 others(25): Show |
p.Glu others(13): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 5/14 | 1101/13092 | 651/1713 | 217/570 | chr1 | TogoVar | |||
ENAH_chr1_225481829_225658123 | 225586488 | TCATGAGA others(11): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0088 | 1 | 308 | 0.0033 | -18 | c.6-1 others(33): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47706893 | CTGTGTGT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0028 others(2): Show |
13 | 422 | 0.0308 | -18 | c.*38 others(29): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2840 | chr12 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47728276 | CACACACA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 422 | 0.0024 | -18 | c.-28 others(29): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2787 | chr12 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 24988664 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 others(25): Show |
45 | 384 | 0.1172 | -18 | c.594 others(35): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ENO2_chr12_6909580_6928697 | 6928065 | CCGGGCGG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 376 | 0.0027 | -18 | c.*52 others(29): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 4369 | chr12 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666945 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0252 |
2 | 418 | 0.0048 | -18 | c.*73 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3372 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667005 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0026others(3): Show | a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0342 others(7): Show |
10 | 418 | 0.0239 | -18 | c.*72 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3312 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667083 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02293.hp1 HG02300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0187 a0002c0002t0002g0231 |
2 | 418 | 0.0048 | -18 | c.*72 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3234 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667173 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 a0001c0001t0008g0244 |
2 | 418 | 0.0048 | -18 | c.*71 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3144 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667221 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 418 | 0.0024 | -18 | c.*70 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3096 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667328 | TGATGGAG others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18961.hp2 NA18968.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 a0001c0003t0001g0301 |
2 | 418 | 0.0048 | -18 | c.*69 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2989 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667481 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0180 |
2 | 418 | 0.0048 | -18 | c.*68 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2836 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667535 | TGATGGTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02683.hp1 HG03834.hp1 NA18974.hp1 |
a0001a0003 | a0001c0003a0003c0011 | a0001c0003t0030a0003c0011t0001 | a0001c0003t0030g0294 a0003c0011t0001g0401 a0003c0011t0001g0402 |
3 | 418 | 0.0072 | -18 | c.*67 others(29): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2782 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 712349 | GCCGCGCG others(11): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 418 | 0.0024 | -18 | c.84+ others(31): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 712356 | GTACCATG others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01081.hp1 others(22): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0304 others(20): Show |
25 | 418 | 0.0598 | -18 | c.84+ others(31): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247828 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0005a0001c0002t0001a0001c0009t0001 | a0001c0001t0005g0168 a0001c0002t0001g0068 a0001c0009t0001g0133 |
3 | 188 | 0.0160 | -18 | c.161 others(39): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43284771 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(45): Show |
48 | 188 | 0.2553 | -18 | c.144 others(39): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 12/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43460813 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp1 HG01257.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0080 a0001c0001t0002g0031 a0001c0001t0002g0040 others(29): Show |
32 | 188 | 0.1702 | -18 | c.-75 others(37): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43593669 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG01975.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0038a0001c0002t0001others(3): Show | a0001c0001t0008g0017 a0001c0001t0038g0177 a0001c0002t0001g0066 others(4): Show |
7 | 188 | 0.0372 | -18 | c.-21 others(39): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43726718 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01496.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0002g0063 a0001c0001t0005g0140 a0001c0001t0005g0145 others(29): Show |
32 | 188 | 0.1702 | -18 | c.-28 others(39): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43734199 | GGTTGTTG others(11): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0007 | 1 | 188 | 0.0053 | -18 | c.-28 others(39): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43790583 | TAAAAAAA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01981.hp2 HG02602.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0098 a0001c0001t0003g0055 a0001c0001t0003g0067 others(7): Show |
10 | 188 | 0.0532 | -18 | c.-42 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3612 | chr13 | TogoVar | |||||||
ENPP1_chr6_131803020_131900155 | 131811376 | ATATATCT others(11): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0121 | 1 | 292 | 0.0034 | -18 | c.240 others(35): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184101304 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0057 | 1 | 320 | 0.0031 | -18 | c.994 others(35): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184101334 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 a0001c0003t0003g0108 |
2 | 320 | 0.0063 | -18 | c.994 others(35): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184119312 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp2 others(25): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0013others(2): Show | a0001c0002t0002a0001c0003t0003a0001c0003t0004others(8): Show | a0001c0002t0002g0042 a0001c0002t0002g0058 a0001c0002t0002g0166 others(24): Show |
28 | 320 | 0.0875 | -18 | c.534 others(35): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79746195 | TAAAAAAA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01099.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0002c0012others(2): Show | a0001c0002t0002a0002c0001t0001a0002c0012t0002others(2): Show | a0001c0002t0002g0078 a0002c0001t0001g0004 a0002c0001t0001g0029 others(5): Show |
9 | 430 | 0.0209 | -18 | c.*44 others(29): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3977 | chr17 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79746224 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0069 | 1 | 430 | 0.0023 | -18 | c.*44 others(29): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 4006 | chr17 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79746627 | AGGGAAGG others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 430 | 0.0023 | -18 | c.*48 others(29): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 4409 | chr17 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02970.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015 a0001c0001t0013g0307 a0001c0001t0013g0308 others(1): Show |
5 | 340 | 0.0147 | -18 | c.16+ others(33): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 74005272 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0349 | 1 | 380 | 0.0026 | -18 | c.-71 others(35): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
ENTPD7_chr10_99654509_99716241 | 99700396 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00738.hp2 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0217 others(49): Show |
58 | 408 | 0.1422 | -18 | c.133 others(35): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137440255 | TCAGGACA others(11): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 392 | 0.0026 | -18 | c.-21 others(35): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440613 | CCCCCCCA others(11): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA18973.hp2 NA19004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0021 |
7 | 392 | 0.0179 | -18 | c.-21 others(33): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137441019 | CCCCCCCA others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01069.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0107 others(4): Show |
23 | 392 | 0.0587 | -18 | c.-21 others(33): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137441146 | CCCCCCCA others(11): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 392 | 0.0026 | -18 | c.-21 others(33): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137441183 | CCCCCCCA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(54): Show |
142 | 392 | 0.3622 | -18 | c.-21 others(32): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29219610 | CATAAATA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 125 | 0.0080 | -18 | c.388 others(37): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29219614 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0064 | 1 | 125 | 0.0080 | -18 | c.388 others(37): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29414856 | GAATACTA others(11): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG03041.hp1 |
a0002a0006 | a0002c0003a0002c0015a0006c0029 | a0002c0003t0013a0002c0015t0005a0006c0029t0029 | a0002c0003t0013g0019 a0002c0015t0005g0070 a0006c0029t0029g0093 |
3 | 125 | 0.0240 | -18 | c.220 others(37): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29472456 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02895.hp1 others(4): Show |
a0001a0003a0007 | a0001c0002a0001c0008a0003c0006others(2): Show | a0001c0002t0001a0001c0008t0007a0003c0006t0002others(3): Show | a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0008t0007g0106 others(4): Show |
7 | 125 | 0.0560 | -18 | c.220 others(37): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27720531 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02258.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0011a0002c0002t0004others(2): Show | a0001c0001t0001g0068 a0001c0001t0011g0069 a0002c0002t0004g0015 others(4): Show |
23 | 400 | 0.0575 | -18 | c.882 others(33): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41167576 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0075 | a0001c0001t0007g0287 a0001c0005t0075g0134 |
2 | 300 | 0.0067 | -18 | c.387 others(35): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41167584 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0024a0002c0003others(1): Show | a0001c0001t0003a0001c0024t0003a0002c0003t0001others(1): Show | a0001c0001t0003g0255 a0001c0024t0003g0296 a0002c0003t0001g0149 others(3): Show |
6 | 300 | 0.0200 | -18 | c.387 others(35): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41179880 | TCACACAC others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0037 | a0001c0001t0019g0204 a0001c0001t0019g0205 a0001c0001t0019g0235 others(1): Show |
4 | 300 | 0.0133 | -18 | c.*95 others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 950 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46362959 | GGTGGTGG others(11): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0008a0008c0008t0042 | a0001c0001t0008g0001 a0001c0001t0008g0045 a0008c0008t0042g0023 |
4 | 326 | 0.0123 | -18 | c.779 others(35): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L1_chr20_36149740_36237799 | 36188627 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0004g0123 a0001c0002t0003g0006 a0001c0002t0003g0042 others(13): Show |
17 | 236 | 0.0720 | -18 | c.102 others(35): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |