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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2S1_chr19_46833167_46855846 | 46852029 | GTTAGT | G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0002g0032others(2): Show | 6 | 424 | 0.0142 | -5 | c.-12 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 1184 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78023439 | CAAGAA | C | intron_variant | MODIFIER | HG03834.hp1 HG04199.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010a0002c0003t0001g0070 | 2 | 226 | 0.0089 | -5 | c.289 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78052189 | ATATTT | A | intron_variant | MODIFIER | NA18998.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0027 | 2 | 226 | 0.0089 | -5 | c.257 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78090867 | AGCGGT | A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | 226 | 0.0221 | -5 | c.247 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78133661 | TAATTA | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 |
a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | 226 | 0.0089 | -5 | c.165 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78169733 | GTTTAT | G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001a0003 | a0001c0004a0001c0012a0003c0007 | a0001c0004t0001a0001c0012t0001a0003c0007t0002 | a0001c0004t0001g0077a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | 226 | 0.0354 | -5 | c.116 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78189869 | CAAATA | C | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01258.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(26): Show | 29 | 226 | 0.1283 | -5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78266221 | TAACTA | T | intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0002 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | 226 | 0.0177 | -5 | c.204 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAA | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013a0001c0001t0006g0014a0001c0001t0006g0015others(2): Show | 8 | 334 | 0.0240 | -5 | c.804 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74128121 | AAAAGG | A | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224a0001c0001t0003g0228a0001c0001t0003g0231others(5): Show | 8 | 334 | 0.0240 | -5 | c.803 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01175.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0218a0001c0001t0001g0220others(26): Show | 29 | 378 | 0.0767 | -5 | c.69+ others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP4B1_chr1_113889194_113909799 | 113897591 | GCAAAA | G | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01168.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0016a0002c0002t0002g0039a0002c0002t0007g0040 | 7 | 434 | 0.0161 | -5 | c.130 others(22): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113906046 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(168): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(27): Show | 171 | 434 | 0.3940 | -5 | c.-13 others(16): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1248 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50912657 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(142): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0010a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0195others(140): Show | 145 | 392 | 0.3699 | -5 | c.222 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50999703 | CTTTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG03834.hp1 HG03942.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0019a0004c0005t0001 | a0001c0001t0001g0222a0001c0001t0001g0237a0001c0001t0001g0266others(7): Show | 10 | 392 | 0.0255 | -5 | c.309 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01168.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0207a0001c0001t0001g0210a0001c0001t0001g0212others(21): Show | 24 | 346 | 0.0694 | -5 | c.-72 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0139others(4): Show | 7 | 346 | 0.0202 | -5 | c.-71 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5B1_chr11_65768898_65785976 | 65769257 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0008a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(11): Show | a0001c0001t0001g0001a0001c0001t0009g0009a0001c0001t0012g0014others(11): Show | 77 | 424 | 0.1816 | -5 | c.*85 others(16): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 4640 | chr11 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65773544 | CTGTAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(67): Show |
a0002a0005a0007others(1): Show | a0002c0003a0002c0007a0002c0025others(4): Show | a0002c0003t0002a0002c0003t0039a0002c0007t0002others(5): Show | a0002c0003t0002g0002a0002c0003t0039g0062a0002c0007t0002g0006others(5): Show | 70 | 424 | 0.1651 | -5 | c.*43 others(16): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 353 | chr11 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4778785 | TATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 |
a0005 | a0005c0008 | a0005c0008t0013 | a0005c0008t0013g0033a0005c0008t0013g0092 | 3 | 340 | 0.0088 | -5 | c.42- others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4778817 | GTTATA | G | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 HG03471.hp1 |
a0011a0015 | a0011c0013a0015c0029 | a0011c0013t0021a0011c0013t0045a0015c0029t0020 | a0011c0013t0021g0030a0011c0013t0045g0030a0015c0029t0020g0082 | 3 | 340 | 0.0088 | -5 | c.42- others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4791596 | ACTGAG | A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 |
a0005 | a0005c0008 | a0005c0008t0013 | a0005c0008t0013g0033a0005c0008t0013g0092 | 3 | 340 | 0.0088 | -5 | c.*22 others(14): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 17/17 | 222 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
AP5Z1_chr7_4770623_4799397 | 4795907 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01081.hp2 others(9): Show |
a0001a0004a0014 | a0001c0001a0001c0005a0004c0007others(1): Show | a0001c0001t0002a0001c0001t0049a0001c0005t0009others(2): Show | a0001c0001t0002g0105a0001c0001t0049g0087a0001c0005t0009g0031others(6): Show | 12 | 340 | 0.0353 | -5 | c.*45 others(16): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1511 | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4798005 | TAATAA | T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp2 others(18): Show |
a0003a0007a0010 | a0003c0004a0007c0011a0007c0018others(1): Show | a0003c0004t0004a0003c0004t0007a0007c0011t0007others(2): Show | a0003c0004t0004g0004a0003c0004t0004g0016a0003c0004t0004g0056others(8): Show | 21 | 340 | 0.0618 | -5 | c.*66 others(16): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3609 | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98640441 | TCAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0081a0001c0001t0001g0102others(122): Show | 125 | 366 | 0.3415 | -5 | c.-54 others(16): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4848 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp2 HG02257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0125a0001c0001t0003g0154a0001c0001t0003g0168others(16): Show | 19 | 366 | 0.0519 | -5 | c.526 others(22): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98659770 | AAAGAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02257.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0022a0001c0002t0023 | a0001c0001t0008g0308a0001c0001t0008g0311a0001c0001t0008g0312others(3): Show | 6 | 366 | 0.0164 | -5 | c.710 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98665274 | ATATAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(41): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0002g0209a0001c0001t0002g0314a0001c0001t0002g0324others(41): Show | 44 | 366 | 0.1202 | -5 | c.956 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98692011 | ACCATG | A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0215a0001c0001t0019g0216a0001c0001t0020g0351others(1): Show | 4 | 366 | 0.0109 | -5 | c.230 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69515690 | TGGGGG | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01071.hp1 others(64): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(64): Show | 67 | 210 | 0.3191 | -5 | c.120 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69635281 | TGTTAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02895.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0017 | a0002c0002t0001g0012a0002c0002t0003g0013a0002c0002t0003g0014others(3): Show | 6 | 210 | 0.0286 | -5 | c.-70 others(24): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28882767 | AGAAGT | A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0014 | a0001c0001t0002a0001c0001t0008a0002c0002t0003others(2): Show | a0001c0001t0002g0116a0001c0001t0002g0117a0001c0001t0002g0190others(4): Show | 7 | 204 | 0.0343 | -5 | c.-37 others(16): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3206 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28896271 | TTCTTC | T | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp1 HG03540.hp1 others(1): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0006a0002c0002t0007a0002c0016t0036 | a0002c0002t0006g0003a0002c0002t0007g0002a0002c0002t0007g0004others(1): Show | 4 | 204 | 0.0196 | -5 | c.-20 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28955748 | CTCCCA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01167.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0051others(55): Show | 58 | 204 | 0.2843 | -5 | c.-95 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28977124 | ATTAGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp2 HG01884.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0006a0001c0001t0003g0104a0001c0001t0006g0160others(14): Show | 17 | 204 | 0.0833 | -5 | c.-94 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29025486 | CTCGAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(159): Show | 162 | 204 | 0.7941 | -5 | c.-40 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29119769 | TGAAGA | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01884.hp1 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(13): Show | a0001c0001t0003g0104a0001c0001t0006g0160a0001c0001t0012g0199others(27): Show | 30 | 204 | 0.1471 | -5 | c.*26 others(16): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1455 | chr15 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3762266 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(44): Show |
a0001a0002a0007others(6): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0003t0004a0001c0004t0002others(12): Show | a0001c0002t0002g0013a0001c0002t0002g0092a0001c0003t0004g0038others(21): Show | 47 | 450 | 0.1044 | -5 | c.-77 others(14): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 575 | chr19 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26438484 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(244): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(244): Show | 247 | 358 | 0.6899 | -5 | c.-20 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26484295 | GTTTGT | G | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01106.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0108a0001c0001t0001g0115a0001c0001t0002g0270others(18): Show | 21 | 358 | 0.0587 | -5 | c.1-8 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26489378 | TTAAAA | T | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02717.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0113a0001c0001t0001g0154a0002c0002t0001g0147 | 3 | 358 | 0.0084 | -5 | c.1-2 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40857469 | GTTTCT | G | intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 NA18983.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0021a0001c0003t0002others(1): Show | a0001c0002t0002g0098a0001c0002t0021g0083a0001c0003t0002g0072others(1): Show | 4 | 192 | 0.0208 | -5 | c.153 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40907374 | TATATA | T | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0001a0002c0005 | a0002c0001t0006a0002c0005t0001a0002c0005t0006others(1): Show | a0002c0001t0006g0168a0002c0005t0001g0100a0002c0005t0006g0187others(1): Show | 4 | 192 | 0.0208 | -5 | c.125 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40928423 | CACACA | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01106.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0013others(5): Show | a0001c0002t0001g0109a0001c0002t0006g0058a0001c0003t0013g0024others(7): Show | 10 | 192 | 0.0521 | -5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946232 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02559.hp1 others(13): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0005a0001c0003t0006a0001c0003t0030others(11): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0001c0003t0030g0021others(13): Show | 16 | 192 | 0.0833 | -5 | c.836 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40961667 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(48): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(30): Show | a0001c0002t0001g0101a0001c0002t0001g0110a0001c0002t0002g0061others(48): Show | 51 | 192 | 0.2656 | -5 | c.836 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40964891 | CGGGCA | C | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG06807.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0009a0001c0004t0020a0002c0001t0016 | a0001c0004t0009g0114a0001c0004t0020g0161a0002c0001t0016g0154 | 3 | 192 | 0.0156 | -5 | c.836 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40974211 | CCTTAA | C | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG02622.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0005 | a0001c0003t0005a0001c0003t0006a0001c0003t0009others(7): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0001c0003t0009g0162others(7): Show | 10 | 192 | 0.0521 | -5 | c.836 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982387 | GAAGGA | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0002t0001g0110a0001c0002t0002g0119a0001c0002t0002g0175others(5): Show | 8 | 192 | 0.0417 | -5 | c.835 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41005732 | GAAGTA | G | intron_variant | MODIFIER | NA18955.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0179a0001c0002t0002g0071 | 2 | 192 | 0.0104 | -5 | c.835 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar |