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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERN1_chr17_64034142_64135144 | 64116654 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0039a0001c0003t0004others(4): Show | a0001c0001t0003g0151a0001c0002t0039g0231a0001c0003t0004g0145others(13): Show | 16 | 234 | 0.0684 | 8 | c.54+ others(25): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64134446 | A | AAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0002t0001g0156a0001c0002t0001g0170a0001c0002t0006g0167others(7): Show | 10 | 234 | 0.0427 | 8 | c.-44 others(19): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4303 | chr17 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52684118 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0150a0001c0001t0003g0228a0001c0001t0006g0027others(4): Show | 7 | 398 | 0.0176 | 8 | c.115 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 1/15 | chr14 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52684150 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0068a0001c0001t0001g0083others(55): Show | 61 | 398 | 0.1533 | 8 | c.115 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 1/15 | chr14 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236239863 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02886.hp2 others(2): Show |
a0001a0005a0009 | a0001c0009a0005c0008a0009c0013 | a0001c0009t0005a0001c0009t0052a0005c0008t0028others(1): Show | a0001c0009t0005g0269a0001c0009t0052g0270a0005c0008t0028g0388others(2): Show | 5 | 396 | 0.0126 | 8 | c.506 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236239911 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(39): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0004a0001c0003t0001g0148a0001c0003t0001g0152others(38): Show | 42 | 396 | 0.1061 | 8 | c.505 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236250618 | T | TATGTATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 HG03834.hp1 others(5): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0004a0002c0002t0006a0002c0002t0012others(1): Show | a0002c0002t0004g0215a0002c0002t0004g0248a0002c0002t0004g0256others(5): Show | 8 | 396 | 0.0202 | 8 | c.349 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236258149 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01070.hp2 others(63): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(18): Show | a0001c0001t0003g0287a0001c0001t0003g0288a0001c0001t0003g0290others(63): Show | 66 | 396 | 0.1667 | 8 | c.223 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236258149 | C | CAGAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00673.hp1 others(85): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0004a0002c0002t0006a0002c0002t0011others(16): Show | a0002c0002t0004g0006a0002c0002t0004g0065a0002c0002t0004g0066others(83): Show | 88 | 396 | 0.2222 | 8 | c.223 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236260852 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(111): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0004a0006c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0020others(109): Show | 114 | 396 | 0.2879 | 8 | c.223 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERP27_chr12_14909039_14943537 | 14923488 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0031others(40): Show | 55 | 402 | 0.1368 | 8 | c.334 others(25): Show |
ERP27 | ENSG00000139055.7 | transcript | ENST00000266397.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
ERP27_chr12_14909039_14943537 | 14923492 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0002g0033others(14): Show | 24 | 402 | 0.0597 | 8 | c.334 others(25): Show |
ERP27 | ENSG00000139055.7 | transcript | ENST00000266397.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
ERP29_chr12_112008426_112028449 | 112021515 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0011a0002c0003t0001g0011a0002c0003t0001g0068 | 6 | 398 | 0.0151 | 8 | c.284 others(23): Show |
ERP29 | ENSG00000089248.7 | transcript | ENST00000261735.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00609.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0112a0001c0001t0001g0132a0001c0001t0001g0133others(35): Show | 38 | 220 | 0.1727 | 8 | c.286 others(25): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007442 | A | ACACTCTC others(1): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 NA19003.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0004g0016others(1): Show | 4 | 402 | 0.0100 | 8 | c.*57 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4284 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007477 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG02148.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0130others(1): Show | 7 | 402 | 0.0174 | 8 | c.*57 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4249 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007479 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0003g0010others(1): Show | 8 | 402 | 0.0199 | 8 | c.*57 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4247 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007481 | C | CTCTATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG02717.hp2 NA19087.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0003g0007 | 4 | 402 | 0.0100 | 8 | c.*57 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4245 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01069.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0025others(4): Show | 11 | 402 | 0.0274 | 8 | c.*57 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8029739 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02258.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0133a0001c0002t0001g0021a0001c0002t0001g0027others(6): Show | 17 | 402 | 0.0423 | 8 | c.-36 others(19): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 3431 | chr1 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64989443 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 HG02486.hp1 NA18942.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0072a0001c0001t0002g0080others(8): Show | 11 | 458 | 0.0240 | 8 | c.*17 others(19): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 912 | chr7 | TogoVar | ||||||
ERVH48-1_chr21_42911803_42930630 | 42928568 | A | AAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00735.hp2 others(44): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0003g0002a0001c0001t0003g0041a0001c0001t0012g0019others(10): Show | 47 | 420 | 0.1119 | 8 | c.-35 others(19): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 2939 | chr21 | TogoVar | ||||||
ERVMER34-1_chr4_52737553_52756425 | 52741154 | G | GGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01192.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(13): Show | 51 | 392 | 0.1301 | 8 | c.*26 others(19): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1398 | chr4 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53056069 | T | TATTCATT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00738.hp1 others(22): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0001a0001c0005t0001a0001c0005t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0005t0001g0001others(5): Show | 25 | 446 | 0.0561 | 8 | c.*52 others(19): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 4390 | chr19 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21594925 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01109.hp1 others(24): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0016a0001c0001t0001g0073a0001c0001t0001g0088others(24): Show | 27 | 310 | 0.0871 | 8 | c.-82 others(27): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21603277 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG01952.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0014 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0039others(14): Show | 17 | 310 | 0.0548 | 8 | c.-34 others(19): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2574 | chr18 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27774166 | C | CTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG03041.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0001c0001t0023a0003c0003t0012others(3): Show | a0001c0001t0007g0076a0001c0001t0023g0070a0003c0003t0012g0017others(11): Show | 18 | 380 | 0.0474 | 8 | c.-45 others(17): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 387 | chr8 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27787415 | G | GTAAAATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(187): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(34): Show | a0001c0001t0001g0027a0001c0001t0001g0060a0001c0001t0005g0021others(135): Show | 190 | 380 | 0.5000 | 8 | c.101 others(25): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESCO2_chr8_27769554_27810316 | 27787415 | G | GTAATATG others(1): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18975.hp2 NA19080.hp2 |
a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0017 | 3 | 380 | 0.0079 | 8 | c.101 others(25): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESCO2_chr8_27769554_27810316 | 27803549 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00741.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0036others(3): Show | a0001c0001t0007g0006a0001c0001t0007g0008a0001c0001t0007g0026others(21): Show | 33 | 380 | 0.0868 | 8 | c.*12 others(17): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 11/11 | 130 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
ESD_chr13_46766256_46802161 | 46801218 | G | GATCTATC others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(9): Show | 16 | 406 | 0.0394 | 8 | c.-41 others(19): Show |
ESD | ENSG00000139684.15 | transcript | ENST00000378720.8 | protein_coding | 4058 | chr13 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01361.hp1 HG01934.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0262a0001c0001t0001g0323a0001c0001t0001g0326others(8): Show | 11 | 390 | 0.0282 | 8 | c.226 others(25): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13732903 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18970.hp2 NA18980.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0002 | a0001c0001t0005g0117a0001c0001t0005g0118a0001c0001t0005g0120others(1): Show | 4 | 390 | 0.0103 | 8 | c.195 others(25): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 10/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748437 | T | TACATATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02027.hp2 others(21): Show |
a0001a0002a0012 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0037a0001c0001t0001g0046others(20): Show | 24 | 390 | 0.0615 | 8 | c.182 others(29): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238120077 | C | CTGTTGGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0003others(17): Show | a0001c0012a0001c0016a0001c0018others(36): Show | a0001c0012t0003a0001c0012t0006a0001c0016t0004others(44): Show | a0001c0012t0003g0017a0001c0012t0003g0045a0001c0012t0003g0046others(77): Show | 86 | 408 | 0.2108 | 8 | c.987 others(25): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238126224 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(31): Show | a0001c0005a0001c0008a0001c0012others(82): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0006others(106): Show | a0001c0005t0001g0122a0001c0005t0003g0009a0001c0005t0003g0050others(208): Show | 234 | 408 | 0.5735 | 8 | c.110 others(25): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPN_chr1_6419776_6465944 | 6436482 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0096a0001c0001t0003g0218others(5): Show | 9 | 276 | 0.0326 | 8 | c.489 others(25): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ESPN_chr1_6419776_6465944 | 6452897 | A | ATTTTTAT others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 NA19030.hp1 |
a0001a0002a0008 | a0001c0002a0002c0003a0008c0023 | a0001c0002t0005a0002c0003t0002a0008c0023t0005 | a0001c0002t0005g0033a0002c0003t0002g0037a0008c0023t0005g0035 | 3 | 276 | 0.0109 | 8 | c.232 others(25): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 151806530 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 HG02155.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0002t0002g0222a0001c0002t0004g0207a0001c0002t0004g0233others(7): Show | 10 | 250 | 0.0400 | 8 | c.-13 others(19): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1151 | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151867414 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02895.hp1 HG02922.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0082a0001c0001t0002g0121a0001c0001t0003g0180others(16): Show | 19 | 250 | 0.0760 | 8 | c.644 others(27): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152002185 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0123a0001c0001t0002g0087a0001c0001t0005g0070others(12): Show | 15 | 250 | 0.0600 | 8 | c.109 others(27): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152003340 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03579.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0005a0001c0002t0034others(1): Show | a0001c0002t0004g0233a0001c0002t0005g0241a0001c0002t0034g0016others(1): Show | 4 | 250 | 0.0160 | 8 | c.109 others(27): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152012017 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG02056.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0123a0001c0002t0003g0221a0001c0003t0002g0046others(3): Show | 6 | 250 | 0.0240 | 8 | c.123 others(25): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152012052 | A | ACTCACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0064a0001c0001t0002g0087a0001c0001t0002g0091others(16): Show | 19 | 250 | 0.0760 | 8 | c.123 others(25): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152057694 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0002t0009 | a0001c0001t0009g0179a0001c0001t0012g0068a0001c0002t0009g0194 | 3 | 250 | 0.0120 | 8 | c.123 others(27): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR2_chr14_64223317_64299371 | 64224181 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00741.hp2 others(35): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0004g0007a0001c0001t0004g0074a0001c0001t0004g0075others(35): Show | 38 | 368 | 0.1033 | 8 | c.*89 others(19): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 4135 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64253560 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02683.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0038 | a0001c0001t0001g0092a0001c0001t0001g0114a0001c0001t0015g0128others(1): Show | 4 | 368 | 0.0109 | 8 | c.109 others(27): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 6/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64253604 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02602.hp2 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0280a0001c0001t0004g0262a0001c0001t0004g0263others(9): Show | 12 | 368 | 0.0326 | 8 | c.109 others(27): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 6/8 | chr14 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94657472 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01071.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0001g0228others(26): Show | 29 | 374 | 0.0775 | 8 | c.491 others(25): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01070.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0012others(3): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0127others(17): Show | 20 | 374 | 0.0535 | 8 | c.932 others(23): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |