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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54823850 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 NA18948.hp1 NA18963.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0009others(1): Show | a0001c0001t0001g0211 a0001c0002t0004g0065 a0001c0002t0004g0066 others(3): Show |
6 | 264 | 0.0227 | 22 | c.525 others(39): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54848524 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0011a0001c0003t0002a0001c0003t0009others(3): Show | a0001c0002t0011g0108 a0001c0003t0002g0151 a0001c0003t0002g0154 others(7): Show |
10 | 264 | 0.0379 | 22 | c.118 others(39): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01070.hp1 others(12): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0005a0001c0001t0055a0001c0002t0003others(8): Show | a0001c0001t0005g0033 a0001c0001t0005g0042 a0001c0001t0005g0043 others(12): Show |
15 | 264 | 0.0568 | 22 | c.243 others(41): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882872 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0259 a0001c0001t0007g0238 |
2 | 264 | 0.0076 | 22 | c.243 others(41): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0022 | a0001c0022t0057 | a0001c0022t0057g0262 | 1 | 264 | 0.0038 | 22 | c.243 others(41): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54943972 | T | TTTGAAAG others(15): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 264 | 0.0038 | 22 | c.400 others(41): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(15): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0107 | 1 | 264 | 0.0038 | 22 | c.496 others(39): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP1_chr12_13191726_13224941 | 13195108 | T | TTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02683.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0238 others(3): Show |
6 | 444 | 0.0135 | 22 | c.-18 others(33): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 1617 | chr12 | TogoVar | |||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG00733.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0003g0083 others(13): Show |
16 | 402 | 0.0398 | 22 | c.-61 others(39): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMP2_chr16_10523422_10585598 | 10579708 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0002 | a0001c0001t0019g0370 a0001c0002t0002g0369 |
2 | 402 | 0.0050 | 22 | c.-61 others(37): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMSY_chr11_76440018_76558031 | 76518684 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0261 a0001c0001t0002g0283 |
3 | 360 | 0.0083 | 22 | c.172 others(41): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225561636 | A | AAAATAAA others(15): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 308 | 0.0033 | 22 | c.171 others(39): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225594298 | T | TTACAATG others(15): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0014 | a0001c0014t0105 | a0001c0014t0105g0195 | 1 | 308 | 0.0033 | 22 | c.6-2 others(37): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAM_chr4_70623744_70651824 | 70648902 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0025 | 1 | 410 | 0.0024 | 22 | c.*40 others(33): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 2079 | chr4 | TogoVar | |||||||
ENDOD1_chr11_95084846_95137645 | 95108494 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18980.hp2 NA18985.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0012a0002c0002t0002a0004c0004t0005 | a0001c0001t0012g0084 a0002c0002t0002g0316 a0004c0004t0005g0320 |
3 | 368 | 0.0082 | 22 | c.300 others(41): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127837810 | C | CCATCCAT others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01109.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 others(15): Show |
19 | 344 | 0.0552 | 22 | c.219 others(39): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 24997807 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0252 | 1 | 384 | 0.0026 | 22 | c.223 others(39): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 25020276 | A | ATATCTAT others(15): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01069.hp2 others(37): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0001 others(23): Show |
40 | 384 | 0.1042 | 22 | c.-43 others(33): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4119 | chr10 | TogoVar | |||||||
ENO3_chr17_4946119_4962129 | 4955883 | C | CCTGTCTC others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 440 | 0.0023 | 22 | c.866 others(35): Show |
ENO3 | ENSG00000108515.18 | transcript | ENST00000519602.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENO4_chr10_116844499_116887601 | 116875561 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18944.hp1 NA19007.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0008 a0001c0002t0002g0157 a0001c0002t0010g0133 |
5 | 400 | 0.0125 | 22 | c.134 others(39): Show |
ENO4 | ENSG00000188316.16 | transcript | ENST00000341276.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667571 | A | ATGGAGAT others(15): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0356 | 1 | 418 | 0.0024 | 22 | c.*67 others(33): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2746 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 690702 | A | AAGCTGTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(178): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(25): Show | a0001c0001t0001g0053 a0001c0001t0001g0084 a0001c0001t0002g0001 others(169): Show |
181 | 418 | 0.4330 | 22 | c.536 others(35): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 7/15 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATTT others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0075 | 1 | 188 | 0.0053 | 22 | c.161 others(43): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43373589 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0162 | 1 | 188 | 0.0053 | 22 | c.209 others(41): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 5/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616166 | C | CTAGATAG others(15): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 188 | 0.0053 | 22 | c.-21 others(43): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 188 | 0.0053 | 22 | c.-21 others(43): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43651695 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01261.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0004g0102 a0001c0001t0007g0180 a0001c0001t0008g0091 others(3): Show |
6 | 188 | 0.0319 | 22 | c.-21 others(43): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 292 | 0.0034 | 22 | c.189 others(39): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0224 | 1 | 292 | 0.0034 | 22 | c.189 others(39): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131641799 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02559.hp1 HG02976.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0065 a0001c0002t0001g0035 a0001c0002t0001g0043 others(6): Show |
9 | 278 | 0.0324 | 22 | c.154 others(37): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131679053 | C | CTTTTCTT others(15): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0146 | 1 | 278 | 0.0036 | 22 | c.101 others(41): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131699235 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 278 | 0.0036 | 22 | c.141 others(41): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131217 | T | TTTCTTTC others(15): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 320 | 0.0031 | 22 | c.422 others(39): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENTHD1_chr22_39738044_39898760 | 39784543 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 218 | 0.0046 | 22 | c.833 others(41): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95758002 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02886.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 others(1): Show |
4 | 340 | 0.0118 | 22 | c.16+ others(37): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95856671 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0019 | 1 | 340 | 0.0029 | 22 | c.107 others(41): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 412 | 0.0049 | 22 | c.*57 others(33): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTPD7_chr10_99654509_99716241 | 99662447 | T | TACTTTCA others(15): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0298 | 1 | 408 | 0.0025 | 22 | c.191 others(37): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29402265 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 125 | 0.0080 | 22 | c.220 others(41): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29402265 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0010 | a0001c0002t0001g0041 a0001c0011t0010g0053 |
2 | 125 | 0.0160 | 22 | c.220 others(41): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29566846 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03486.hp2 |
a0002 | a0002c0004a0002c0009 | a0002c0004t0015a0002c0009t0015 | a0002c0004t0015g0007 a0002c0009t0015g0029 |
2 | 125 | 0.0160 | 22 | c.219 others(39): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252690 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0162 | 1 | 395 | 0.0025 | 22 | c.622 others(37): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 395 | 0.0025 | 22 | c.622 others(37): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 395 | 0.0025 | 22 | c.622 others(37): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109349396 | G | GATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0032 others(11): Show |
17 | 428 | 0.0397 | 22 | c.*59 others(33): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 3443 | chr8 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109349397 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0006 a0001c0001t0007g0043 |
3 | 428 | 0.0070 | 22 | c.*59 others(33): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 3444 | chr8 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109349397 | T | TTTTATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0026 | 1 | 428 | 0.0023 | 22 | c.*59 others(33): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 3444 | chr8 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 68976641 | C | CGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0009 | a0001c0009t0054 | a0001c0009t0054g0314 | 1 | 444 | 0.0023 | 22 | c.*95 others(31): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 18/18 | 976 | chr3 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69013536 | A | AGCGGGGG others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02615.hp1 HG02723.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0005a0003c0008t0029others(1): Show | a0003c0008t0001g0032 a0003c0008t0005g0033 a0003c0008t0029g0035 others(1): Show |
4 | 444 | 0.0090 | 22 | c.-35 others(37): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 69016256 | G | GGTTTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0020 | a0001c0020t0005 | a0001c0020t0005g0287 | 1 | 444 | 0.0023 | 22 | c.-30 others(33): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 2573 | chr3 | TogoVar |