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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERV3-1_chr7_64985356_65011687 | 65004361 | T | TCAAAA | intron_variant | MODIFIER | HG02132.hp2 NA19007.hp2 NA19079.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 3 | 458 | 0.0066 | 5 | c.-38 others(24): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
ERVMER34-1_chr4_52737553_52756425 | 52741139 | A | AGAAAG | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02647.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0004g0015a0001c0001t0004g0036others(1): Show | 5 | 392 | 0.0128 | 5 | c.*26 others(16): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1413 | chr4 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21525874 | A | ATAGAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0002others(11): Show | a0001c0001t0001g0076a0001c0001t0001g0101a0001c0001t0001g0140others(128): Show | 136 | 310 | 0.4387 | 5 | c.*44 others(16): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 3409 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21603277 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG00741.hp1 others(21): Show |
a0001a0002a0003 | a0001c0003a0002c0004a0003c0005 | a0001c0003t0002a0001c0003t0009a0002c0004t0001others(2): Show | a0001c0003t0002g0005a0001c0003t0002g0164a0001c0003t0002g0168others(21): Show | 24 | 310 | 0.0774 | 5 | c.-34 others(16): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2574 | chr18 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27802607 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG01952.hp2 others(13): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0217a0001c0001t0003g0011a0001c0001t0003g0164others(11): Show | 16 | 380 | 0.0421 | 5 | c.167 others(22): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESCO2_chr8_27769554_27810316 | 27802656 | T | TATATA | intron_variant | MODIFIER | HG00140.hp2 HG01981.hp2 HG02451.hp1 others(4): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0005a0001c0001t0019a0001c0001t0025others(2): Show | a0001c0001t0005g0041a0001c0001t0005g0145a0001c0001t0019g0141others(3): Show | 7 | 380 | 0.0184 | 5 | c.167 others(22): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | chr8 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27805287 | C | CAAAAA | intragenic_variant | MODIFIER | HG01358.hp2 HG02886.hp2 HG03239.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0045 | a0001c0001t0013g0002a0001c0001t0013g0013a0001c0001t0013g0022others(5): Show | 8 | 380 | 0.0211 | 5 | n.278 others(22): Show |
ESCO2 | ENSG00000171320.15 | gene_variant | ENSG00000171320.15 | chr8 | TogoVar | ||||||||
ESCO2_chr8_27769554_27810316 | 27808684 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(67): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0011others(1): Show | a0001c0001t0007a0001c0001t0017a0002c0002t0001others(7): Show | a0001c0001t0007g0163a0001c0001t0017g0026a0001c0001t0017g0071others(38): Show | 70 | 380 | 0.1842 | 5 | c.*52 others(16): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 3369 | chr8 | TogoVar | ||||||
ESD_chr13_46766256_46802161 | 46794157 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(154): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(59): Show | 157 | 406 | 0.3867 | 5 | c.-55 others(20): Show |
ESD | ENSG00000139684.15 | transcript | ENST00000378720.8 | protein_coding | 1/9 | chr13 | TogoVar | ||||||
ESD_chr13_46766256_46802161 | 46794161 | A | AAAAAC | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0001g0082others(1): Show | 6 | 406 | 0.0148 | 5 | c.-55 others(20): Show |
ESD | ENSG00000139684.15 | transcript | ENST00000378720.8 | protein_coding | 1/9 | chr13 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0260a0001c0001t0002g0098others(2): Show | 6 | 390 | 0.0154 | 5 | c.226 others(22): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748588 | A | ATTTTT | intron_variant | MODIFIER | HG03704.hp2 NA18970.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0117a0001c0001t0005g0119a0001c0001t0005g0120 | 3 | 390 | 0.0077 | 5 | c.182 others(26): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238125767 | T | TTGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(94): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0005a0001c0008others(43): Show | a0001c0002t0004a0001c0005t0003a0001c0008t0004others(49): Show | a0001c0002t0004g0036a0001c0002t0004g0275a0001c0002t0004g0277others(86): Show | 97 | 408 | 0.2378 | 5 | c.110 others(22): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238127111 | A | ATTGTG | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01256.hp1 others(5): Show |
a0001a0004a0005others(2): Show | a0001c0005a0004c0017a0005c0007others(2): Show | a0001c0005t0001a0004c0017t0005a0005c0007t0008others(2): Show | a0001c0005t0001g0122a0004c0017t0005g0012a0004c0017t0005g0121others(3): Show | 8 | 408 | 0.0196 | 5 | c.110 others(22): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPN_chr1_6419776_6465944 | 6424707 | T | TGCGGG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02976.hp2 others(3): Show |
a0001a0002a0005 | a0001c0009a0002c0003a0005c0007 | a0001c0009t0002a0002c0003t0002a0005c0007t0002 | a0001c0009t0002g0036a0001c0009t0002g0038a0002c0003t0002g0037others(2): Show | 6 | 276 | 0.0217 | 5 | c.-24 others(14): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 68 | chr1 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151821181 | C | CGTGAA | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01433.hp2 others(31): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(14): Show | a0001c0002t0001g0195a0001c0002t0001g0197a0001c0002t0001g0203others(31): Show | 34 | 250 | 0.1360 | 5 | c.452 others(24): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151853197 | A | AAAGAG | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG02071.hp2 others(33): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0082a0001c0001t0001g0112a0001c0001t0001g0123others(33): Show | 36 | 250 | 0.1440 | 5 | c.643 others(24): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 151957526 | A | ATTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002a0001c0001t0001g0055a0001c0001t0001g0057others(95): Show | 98 | 250 | 0.3920 | 5 | c.109 others(26): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 151961755 | A | AGTTGT | intron_variant | MODIFIER | HG02683.hp2 HG03704.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0020a0001c0003t0001a0001c0005t0007 | a0001c0001t0020g0096a0001c0003t0001g0089a0001c0005t0007g0226 | 3 | 250 | 0.0120 | 5 | c.109 others(26): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152047913 | T | TCCAGG | intron_variant | MODIFIER | HG01433.hp2 HG02970.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0003g0180a0001c0001t0012g0174a0001c0002t0001g0195others(3): Show | 6 | 250 | 0.0240 | 5 | c.123 others(26): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152079509 | T | TCATCA | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0011a0001c0002t0002a0001c0002t0011others(1): Show | a0001c0001t0011g0159a0001c0002t0002g0188a0001c0002t0011g0235others(1): Show | 4 | 250 | 0.0160 | 5 | c.137 others(26): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64246734 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01175.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0070a0001c0002t0003others(5): Show | a0001c0001t0005g0020a0001c0001t0070g0229a0001c0002t0003g0171others(14): Show | 17 | 368 | 0.0462 | 5 | c.122 others(24): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64247956 | A | AGCATT | intron_variant | MODIFIER | NA18965.hp1 NA18982.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0044 | 3 | 368 | 0.0082 | 5 | c.122 others(24): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64253560 | T | TGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG01975.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0037 | a0001c0001t0001g0136a0001c0001t0001g0141a0001c0001t0007g0209others(1): Show | 4 | 368 | 0.0109 | 5 | c.109 others(24): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 6/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64283792 | G | GAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(51): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0015others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0018others(14): Show | a0001c0002t0003g0048a0001c0002t0003g0155a0001c0002t0003g0159others(50): Show | 54 | 368 | 0.1467 | 5 | c.-90 others(20): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94655060 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0103a0001c0001t0001g0104others(86): Show | 90 | 374 | 0.2406 | 5 | c.491 others(22): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94655065 | T | TGTGTG | intron_variant | MODIFIER | HG02886.hp1 HG03471.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0148 | 3 | 374 | 0.0080 | 5 | c.491 others(22): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94655065 | T | TTTGTG | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(1): Show | a0001c0001t0001g0149a0001c0001t0011g0136a0001c0002t0002g0025others(1): Show | 4 | 374 | 0.0107 | 5 | c.491 others(22): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94664141 | T | TTTTTG | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0088a0001c0003t0001g0134others(22): Show | 26 | 374 | 0.0695 | 5 | c.645 others(20): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682932 | A | ATATAT | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0169a0001c0001t0001g0204a0001c0001t0001g0227others(8): Show | 11 | 374 | 0.0294 | 5 | c.182 others(24): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATA | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp2 HG01934.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0125a0001c0001t0001g0128a0001c0001t0001g0221others(7): Show | 10 | 374 | 0.0267 | 5 | c.182 others(24): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94690276 | A | ATTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01517.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0001 | a0001c0001t0001g0159a0001c0001t0001g0163a0001c0001t0001g0169others(8): Show | 11 | 374 | 0.0294 | 5 | c.182 others(24): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94695371 | T | TTTTTC | intron_variant | MODIFIER | HG00438.hp2 HG01175.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0118others(12): Show | 15 | 374 | 0.0401 | 5 | c.197 others(24): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94708054 | T | TTTTAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(266): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(264): Show | 269 | 374 | 0.7193 | 5 | c.*21 others(16): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 589 | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76393967 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0002g0011others(4): Show | 7 | 318 | 0.0220 | 5 | c.50+ others(22): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76451789 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00642.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0016others(35): Show | 38 | 318 | 0.1195 | 5 | c.461 others(24): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76461478 | C | CTTTTG | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG01099.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0103a0001c0001t0001g0105a0001c0001t0001g0118others(19): Show | 22 | 318 | 0.0692 | 5 | c.461 others(22): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76474816 | C | CAAACA | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01256.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0024a0001c0001t0001g0086a0001c0001t0001g0095others(28): Show | 31 | 318 | 0.0975 | 5 | c.578 others(22): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76477590 | A | ATGGCC | intron_variant | MODIFIER | HG00323.hp2 HG02451.hp2 NA18971.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0022 | a0001c0001t0011g0201a0001c0001t0011g0292a0001c0002t0022g0131 | 3 | 318 | 0.0094 | 5 | c.578 others(22): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRG_chr1_216498251_216728429 | 216544735 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0067a0001c0001t0001g0095others(48): Show | 51 | 286 | 0.1783 | 5 | c.862 others(24): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216569158 | G | GAGGGA | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01167.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0060a0001c0001t0001g0070a0001c0001t0001g0077others(23): Show | 26 | 286 | 0.0909 | 5 | c.590 others(22): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216569190 | G | GGGAAA | intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG01981.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0167a0001c0001t0001g0244others(24): Show | 27 | 286 | 0.0944 | 5 | c.590 others(22): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216589903 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG02280.hp1 HG02486.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0075a0001c0001t0001g0135a0001c0001t0001g0140others(14): Show | 17 | 286 | 0.0594 | 5 | c.590 others(24): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216603948 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0067others(171): Show | 174 | 286 | 0.6084 | 5 | c.590 others(24): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216658848 | A | AAGAAG | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02015.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0093a0001c0001t0001g0116a0001c0001t0001g0136others(23): Show | 26 | 286 | 0.0909 | 5 | c.473 others(22): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
ESS2_chr22_19125279_19149651 | 19128634 | A | AAGGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(77): Show | 238 | 432 | 0.5509 | 5 | c.*55 others(16): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 1644 | chr22 | TogoVar | ||||||
ESS2_chr22_19125279_19149651 | 19136031 | T | TAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(2): Show | a0001c0002t0001g0120a0001c0002t0002g0041a0001c0002t0002g0157others(3): Show | 11 | 432 | 0.0255 | 5 | c.103 others(22): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 8/9 | chr22 | TogoVar | ||||||
ESYT1_chr12_56123267_56149674 | 56146061 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01358.hp1 others(5): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0073others(5): Show | 8 | 370 | 0.0216 | 5 | c.*21 others(16): Show |
ESYT1 | ENSG00000139641.13 | transcript | ENST00000394048.10 | protein_coding | 1388 | chr12 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158758091 | A | ATACTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(364): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(64): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(361): Show | 367 | 370 | 0.9919 | 5 | c.141 others(24): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 13/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158792160 | C | CTTTTT | intron_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02572.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0014a0001c0001t0017a0001c0006t0009others(2): Show | a0001c0001t0014g0186a0001c0001t0014g0187a0001c0001t0017g0192others(6): Show | 9 | 370 | 0.0243 | 5 | c.584 others(22): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 4/22 | chr7 | TogoVar |