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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERFL_chr19_41902704_41933449 | 41914623 | ATCTCTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(30): Show |
a0000a0001a0004 | a0000c0003a0001c0001a0001c0002others(2): Show | a0000c0003t0003a0001c0001t0001a0001c0001t0003others(4): Show | a0000c0003t0003g0238a0001c0001t0001g0043a0001c0001t0001g0044others(30): Show | 33 | 330 | 0.1000 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914682 | CATCTCT | C | intron_variant | MODIFIER | HG01258.hp2 HG02074.hp1 HG03540.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0176a0001c0001t0003g0236a0001c0001t0003g0269others(4): Show | 7 | 330 | 0.0212 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914763 | CGTCTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG01258.hp1 HG01261.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0049a0001c0001t0001g0102others(44): Show | 55 | 330 | 0.1667 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERG28_chr14_75644791_75665876 | 75645033 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG01943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(5): Show | 10 | 420 | 0.0238 | -6 | c.*65 others(17): Show |
ERG28 | ENSG00000133935.7 | transcript | ENST00000256319.7 | protein_coding | 4757 | chr14 | TogoVar | ||||||
ERG28_chr14_75644791_75665876 | 75656279 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0017others(29): Show | 86 | 420 | 0.2048 | -6 | c.133 others(23): Show |
ERG28 | ENSG00000133935.7 | transcript | ENST00000256319.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172839600 | CACACAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0325a0001c0001t0004g0326a0001c0001t0007g0307others(1): Show | 4 | 334 | 0.0120 | -6 | c.20+ others(21): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172840154 | CACGCTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00609.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0077a0001c0001t0001g0199others(83): Show | 86 | 334 | 0.2575 | -6 | c.20+ others(21): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172886604 | TTAATAA | T | intron_variant | MODIFIER | HG01167.hp2 HG02896.hp2 HG03098.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0208a0001c0001t0001g0311a0001c0001t0003g0217others(6): Show | 9 | 334 | 0.0270 | -6 | c.21- others(21): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172937313 | TATTGGC | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0003g0154a0001c0001t0003g0297a0001c0001t0003g0298others(14): Show | 17 | 334 | 0.0509 | -6 | c.765 others(23): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERG_chr21_38375036_38503477 | 38423084 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0259a0001c0001t0001g0275a0001c0001t0001g0291others(12): Show | 15 | 360 | 0.0417 | -6 | c.388 others(21): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38424178 | AGAGCTC | A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0064a0001c0001t0001g0067a0001c0001t0001g0143others(12): Show | 15 | 360 | 0.0417 | -6 | c.237 others(21): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38455114 | CTTTCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(109): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0066others(109): Show | 112 | 360 | 0.3111 | -6 | c.19- others(21): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38470257 | CTATTAT | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0107a0001c0001t0001g0108others(12): Show | 15 | 360 | 0.0417 | -6 | c.19- others(23): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9016042 | AATTATT | A | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02486.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029a0002c0003t0002g0308 | 3 | 426 | 0.0070 | -6 | c.499 others(21): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI2_chr16_20791340_20811472 | 20805419 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(99): Show |
a0002a0009 | a0002c0002a0002c0017a0009c0012 | a0002c0002t0001a0002c0002t0008a0002c0017t0001others(1): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0009others(10): Show | 102 | 412 | 0.2476 | -6 | c.23+ others(19): Show |
ERI2 | ENSG00000196678.14 | transcript | ENST00000357967.9 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259689 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0121a0001c0001t0001g0124a0001c0001t0001g0125others(64): Show | 67 | 340 | 0.1971 | -6 | c.832 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44281878 | ATGTGTG | A | intron_variant | MODIFIER | HG00642.hp2 HG01517.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0001g0062others(9): Show | 12 | 340 | 0.0353 | -6 | c.831 others(23): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44299349 | TTTTTTA | T | intron_variant | MODIFIER | HG01261.hp2 HG02293.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0334a0001c0001t0001g0335others(2): Show | 5 | 340 | 0.0147 | -6 | c.758 others(23): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44310963 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0061a0001c0001t0001g0062others(22): Show | 25 | 340 | 0.0735 | -6 | c.666 others(23): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342857 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01071.hp2 HG01255.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0018others(20): Show | 23 | 340 | 0.0677 | -6 | c.212 others(23): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 678388 | TAGAAAC | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01255.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0156others(17): Show | 21 | 378 | 0.0556 | -6 | c.305 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 695686 | ACCTGTG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0001 | a0001c0001t0001g0010a0001c0001t0001g0156a0001c0001t0001g0208others(7): Show | 11 | 378 | 0.0291 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 695740 | CGCCTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(32): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0068a0001c0001t0001g0116a0001c0001t0001g0150others(32): Show | 35 | 378 | 0.0926 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 695796 | ACCTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(27): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0079a0001c0001t0002g0292a0001c0001t0002g0351others(27): Show | 30 | 378 | 0.0794 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 695851 | ACCTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0079a0001c0001t0002g0292a0001c0001t0002g0331others(28): Show | 31 | 378 | 0.0820 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696003 | CGCCTGT | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(109): Show |
a0001a0006a0011 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(104): Show | 112 | 378 | 0.2963 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696052 | AACCTGC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0068a0001c0001t0001g0116a0001c0001t0001g0178others(35): Show | 38 | 378 | 0.1005 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696113 | CACCTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0099a0001c0001t0001g0116others(3): Show | 6 | 378 | 0.0159 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696114 | ACCTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0222a0001c0002t0001g0023a0001c0002t0001g0027others(26): Show | 29 | 378 | 0.0767 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696217 | CGCCTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(132): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(127): Show | 135 | 378 | 0.3571 | -6 | c.170 others(23): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 733550 | CAGAGAG | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02559.hp1 HG02572.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0002a0001c0003t0001a0002c0005t0001others(1): Show | a0001c0001t0002g0247a0001c0001t0002g0248a0001c0001t0002g0253others(8): Show | 11 | 378 | 0.0291 | -6 | c.-23 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2327 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 735329 | GATAATA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(231): Show | 244 | 378 | 0.6455 | -6 | c.-41 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4106 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170767747 | GTATATA | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0004c0015others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0015t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0018others(8): Show | 19 | 390 | 0.0487 | -6 | c.-29 others(17): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 2630 | chr2 | TogoVar | ||||||
ERICH3_chr1_74563123_74678792 | 74650834 | CTGTGTG | C | intron_variant | MODIFIER | HG01255.hp2 HG03098.hp1 HG03453.hp1 |
a0004a0018a0019 | a0004c0033a0018c0022a0019c0021 | a0004c0033t0001a0018c0022t0001a0019c0021t0007 | a0004c0033t0001g0120a0018c0022t0001g0121a0019c0021t0007g0171 | 3 | 290 | 0.0103 | -6 | c.24- others(21): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073403 | CCTCTCT | C | intron_variant | MODIFIER | NA18941.hp1 NA18954.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171a0001c0001t0002g0170a0001c0001t0002g0172 | 3 | 442 | 0.0068 | -6 | c.58+ others(21): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073454 | ATATATG | A | intron_variant | MODIFIER | HG02132.hp1 HG04204.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0272a0001c0001t0002g0046a0001c0001t0002g0373 | 3 | 442 | 0.0068 | -6 | c.58+ others(21): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073480 | ATATATG | A | intron_variant | MODIFIER | HG04228.hp1 NA18957.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0182a0001c0001t0002g0169a0001c0001t0002g0207 | 3 | 442 | 0.0068 | -6 | c.58+ others(21): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073486 | GTATATA | G | intron_variant | MODIFIER | HG03831.hp1 NA18948.hp1 NA18957.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0001 | a0001c0001t0001g0204a0001c0001t0002g0211a0001c0001t0002g0212others(1): Show | 4 | 442 | 0.0091 | -6 | c.58+ others(21): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98085136 | CTTTTTT | C | intron_variant | MODIFIER | HG01496.hp2 HG01515.hp2 HG02523.hp1 others(30): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0081others(29): Show | 33 | 442 | 0.0747 | -6 | c.59- others(21): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH6B_chr13_45536294_45620739 | 45606496 | AGTGTAT | A | intron_variant | MODIFIER | HG00597.hp1 HG02809.hp2 HG03540.hp2 others(6): Show |
a0003a0004a0005others(2): Show | a0003c0003a0004c0004a0005c0005others(2): Show | a0003c0003t0001a0004c0004t0001a0005c0005t0001others(2): Show | a0003c0003t0001g0132a0003c0003t0001g0141a0004c0004t0001g0209others(6): Show | 9 | 326 | 0.0276 | -6 | c.-59 others(23): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
ERLIN2_chr8_37731634_37763422 | 37734908 | GCTAGCC | G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 5 | 224 | 0.0223 | -6 | c.-17 others(17): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 1725 | chr8 | TogoVar | ||||||
ERMAP_chr1_42812122_42849991 | 42819170 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(119): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0014a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(60): Show | 122 | 386 | 0.3161 | -6 | c.-12 others(25): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ERMAP_chr1_42812122_42849991 | 42819202 | TGTGTGC | T | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01934.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0018a0002c0002t0005g0197 | 4 | 386 | 0.0104 | -6 | c.-12 others(25): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ERMN_chr2_157313631_157330824 | 157322240 | ACACACG | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0021others(16): Show | 42 | 368 | 0.1141 | -6 | c.335 others(21): Show |
ERMN | ENSG00000136541.15 | transcript | ENST00000410096.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
ERMP1_chr9_5779572_5838117 | 5795776 | AAAAAAG | A | intron_variant | MODIFIER | HG02132.hp1 NA18946.hp1 NA19054.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0046a0001c0001t0004g0047a0001c0001t0004g0050others(1): Show | 4 | 378 | 0.0106 | -6 | c.238 others(25): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 13/14 | chr9 | TogoVar | ||||||
ERMP1_chr9_5779572_5838117 | 5834977 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0006a0001c0002t0006g0071a0001c0002t0006g0079 | 5 | 378 | 0.0132 | -6 | c.-19 others(17): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1861 | chr9 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64106715 | TACACAC | T | intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0005 | a0005c0011 | a0005c0011t0012 | a0005c0011t0012g0017a0005c0011t0012g0124 | 2 | 234 | 0.0086 | -6 | c.55- others(21): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
ERN2_chr16_23685310_23718222 | 23697176 | TTAATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(111): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0005a0001c0005t0003a0002c0002t0001others(13): Show | a0001c0001t0005g0037a0001c0001t0005g0070a0001c0001t0005g0074others(86): Show | 114 | 412 | 0.2767 | -6 | c.152 others(25): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 13/21 | chr16 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52645847 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(298): Show | 317 | 398 | 0.7965 | -6 | c.134 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 15/15 | chr14 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52646969 | GTTTCTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0036 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(86): Show | 94 | 398 | 0.2362 | -6 | c.112 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar |