view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4E1_chr15_50903683_51010895 | 50948339 | CTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01943.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0020 | a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 others(5): Show |
8 | 191 | 0.0419 | -3 | c.131 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50982693 | CATT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(73): Show |
a0002a0011 | a0002c0003a0011c0009 | a0002c0003t0003a0002c0003t0010a0002c0003t0013others(4): Show | a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 others(72): Show |
76 | 390 | 0.1949 | -3 | c.196 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50990344 | TTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03209.hp2 others(2): Show |
a0002a0004 | a0002c0003a0002c0006a0004c0005 | a0002c0003t0003a0002c0003t0022a0002c0006t0015others(1): Show | a0002c0003t0003g0031 a0002c0003t0022g0007 a0002c0006t0015g0347 others(2): Show |
5 | 152 | 0.0329 | -3 | c.209 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50998193 | TTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0003a0001c0010t0002a0002c0002t0002others(19): Show | a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(198): Show |
202 | 390 | 0.5179 | -3 | c.290 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 51006859 | CATG | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 others(4): Show |
7 | 390 | 0.0179 | -3 | c.*41 others(14): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 965 | chr15 | TogoVar | |||||||
AP4M1_chr7_100096643_100114039 | 100109584 | ACTC | A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028a0001c0001t0029 | a0001c0001t0016g0018 a0001c0001t0016g0066 a0001c0001t0028g0063 others(1): Show |
4 | 414 | 0.0097 | -3 | c.*27 others(14): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 546 | chr7 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31046862 | AAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0004g0094 a0001c0001t0004g0095 others(4): Show |
7 | 344 | 0.0203 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049429 | ATAT | A | intron_variant | MODIFIER | HG01346.hp2 HG02602.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0001g0335 |
3 | 309 | 0.0097 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0207 others(19): Show |
22 | 95 | 0.2316 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31054867 | CAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0132 others(21): Show |
24 | 98 | 0.2449 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31092547 | TTAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0064 others(2): Show |
5 | 344 | 0.0145 | -3 | c.307 others(18): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57300718 | ATTT | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG01123.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0031a0001c0002t0049 | a0001c0002t0002g0005 a0001c0002t0002g0021 a0001c0002t0002g0042 others(6): Show |
9 | 14 | 0.6429 | -3 | c.*11 others(16): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3823020 | GTTC | G | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02055.hp1 others(21): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0006a0001c0001t0019a0001c0001t0031others(5): Show | a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0009 others(11): Show |
24 | 410 | 0.0585 | -3 | c.176 others(18): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4771208 | TTAA | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(2): Show | a0001c0001t0002g0010 a0001c0001t0006g0010 a0001c0002t0003g0009 others(3): Show |
10 | 338 | 0.0296 | -3 | c.-45 others(14): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4414 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4779410 | CATG | C | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01496.hp2 others(5): Show |
a0001a0014 | a0001c0002a0001c0005a0014c0028 | a0001c0002t0027a0001c0005t0009a0001c0005t0048others(1): Show | a0001c0002t0027g0080 a0001c0005t0009g0030 a0001c0005t0009g0031 others(4): Show |
8 | 338 | 0.0237 | -3 | c.42- others(18): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4782769 | TCTC | T | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01261.hp2 others(31): Show |
a0001a0002 | a0001c0002a0001c0014a0002c0003others(2): Show | a0001c0002t0003a0001c0014t0006a0001c0014t0029others(5): Show | a0001c0002t0003g0070 a0001c0014t0006g0090 a0001c0014t0029g0087 others(20): Show |
34 | 338 | 0.1006 | -3 | c.367 others(18): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4785760 | CTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01496.hp2 others(5): Show |
a0001a0014 | a0001c0001a0001c0005a0014c0028 | a0001c0001t0049a0001c0005t0009a0001c0005t0048others(1): Show | a0001c0001t0049g0082 a0001c0005t0009g0030 a0001c0005t0009g0031 others(4): Show |
8 | 252 | 0.0317 | -3 | c.113 others(18): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4795904 | TTTC | T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0018 | a0001c0002t0003g0008 a0001c0002t0003g0068 a0001c0002t0018g0028 |
5 | 338 | 0.0148 | -3 | c.*45 others(14): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1508 | chr7 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98649875 | TAGC | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0279 a0001c0001t0001g0280 |
4 | 364 | 0.0110 | -3 | c.526 others(18): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0001g0241 a0001c0001t0001g0282 a0001c0001t0007g0240 others(4): Show |
7 | 235 | 0.0298 | -3 | c.526 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665275 | TATA | T | intron_variant | MODIFIER | HG00323.hp1 NA18522.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0218 |
3 | 363 | 0.0083 | -3 | c.956 others(18): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98666849 | GTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(66): Show |
a0001a0007a0009 | a0001c0001a0007c0011a0009c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0003g0007 a0001c0001t0003g0119 a0001c0001t0003g0124 others(64): Show |
69 | 364 | 0.1896 | -3 | c.136 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69422720 | ACTT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00642.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 others(64): Show |
67 | 208 | 0.3221 | -3 | c.*86 others(14): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 4811 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69470561 | TAAG | T | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 others(2): Show |
5 | 208 | 0.0240 | -3 | c.133 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 4/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69477788 | GCCT | G | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0037g0210 |
3 | 208 | 0.0144 | -3 | c.120 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69540122 | GCAA | G | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 HG01255.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0087 others(19): Show |
22 | 100 | 0.2200 | -3 | c.-69 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69541547 | ATTT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01074.hp1 others(48): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0050 others(48): Show |
51 | 173 | 0.2948 | -3 | c.-69 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69654112 | CAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0091 a0001c0001t0002g0092 others(10): Show |
13 | 143 | 0.0909 | -3 | c.-70 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69669373 | AAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 others(4): Show |
7 | 208 | 0.0337 | -3 | c.-70 others(20): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28881872 | GTTC | G | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02451.hp1 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0012a0002c0002t0008a0002c0002t0043others(1): Show | a0001c0001t0012g0199 a0002c0002t0008g0198 a0002c0002t0008g0201 others(3): Show |
6 | 202 | 0.0297 | -3 | c.-46 others(14): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4101 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28893682 | GTCA | G | intron_variant | MODIFIER | HG02818.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0039a0002c0003t0006 | a0001c0001t0039g0188 a0002c0003t0006g0189 |
2 | 202 | 0.0099 | -3 | c.-20 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28917654 | GTAT | G | intron_variant | MODIFIER | HG01167.hp1 HG01981.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(8): Show | a0001c0001t0002g0190 a0001c0001t0003g0173 a0001c0001t0003g0186 others(9): Show |
12 | 202 | 0.0594 | -3 | c.-20 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28927992 | AAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0036 others(19): Show |
22 | 202 | 0.1089 | -3 | c.-95 others(20): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28935054 | CTTG | C | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 a0001c0001t0008g0194 |
2 | 202 | 0.0099 | -3 | c.-95 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28940356 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG02074.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0021 others(11): Show |
14 | 62 | 0.2258 | -3 | c.-95 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28964488 | ATTT | A | intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 HG01981.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0059 others(16): Show |
19 | 59 | 0.3220 | -3 | c.-94 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28980278 | AAAG | A | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0008a0002c0006t0017 | a0001c0001t0008g0163 a0001c0001t0008g0194 a0002c0006t0017g0114 |
3 | 202 | 0.0149 | -3 | c.-94 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29018505 | CCTT | C | intron_variant | MODIFIER | HG01981.hp2 HG02886.hp2 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0002a0001c0001t0003a0002c0016t0036 | a0001c0001t0002g0190 a0001c0001t0003g0186 a0002c0016t0036g0001 |
3 | 202 | 0.0149 | -3 | c.-41 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29025263 | ATTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(144): Show |
147 | 183 | 0.8033 | -3 | c.-40 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29084542 | TAGG | T | intron_variant | MODIFIER | NA18990.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0138 a0001c0001t0007g0139 |
2 | 202 | 0.0099 | -3 | c.106 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29085524 | CAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(4): Show |
a0002a0003 | a0002c0002a0002c0016a0003c0008 | a0002c0002t0003a0002c0002t0010a0002c0002t0026others(2): Show | a0002c0002t0003g0172 a0002c0002t0010g0072 a0002c0002t0010g0073 others(4): Show |
7 | 173 | 0.0405 | -3 | c.107 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29100135 | TGAG | T | intron_variant | MODIFIER | NA19240.hp1 NA20300.hp2 |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0003a0005c0010t0037 | a0002c0002t0003g0204 a0005c0010t0037g0175 |
2 | 202 | 0.0099 | -3 | c.133 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29110270 | TGAG | T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 |
a0002 | a0002c0002a0002c0012 | a0002c0002t0006a0002c0012t0010 | a0002c0002t0006g0093 a0002c0012t0010g0027 |
2 | 202 | 0.0099 | -3 | c.203 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29117888 | CAAG | C | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG01884.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0039others(9): Show | a0001c0001t0006g0160 a0001c0001t0012g0199 a0001c0001t0039g0188 others(22): Show |
25 | 202 | 0.1238 | -3 | c.*75 others(12): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 15/15 | 756 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29119614 | AAAT | A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG01981.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0164 a0001c0001t0003g0196 a0001c0001t0031g0055 |
3 | 202 | 0.0149 | -3 | c.*24 others(14): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1300 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29119645 | AAAT | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0011others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0031others(9): Show | a0001c0001t0003g0131 a0001c0001t0003g0142 a0001c0001t0003g0157 others(25): Show |
28 | 202 | 0.1386 | -3 | c.*25 others(14): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1331 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29120262 | ACTT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03195.hp2 HG03540.hp1 others(2): Show |
a0002a0005 | a0002c0002a0002c0006a0002c0016others(1): Show | a0002c0002t0045a0002c0006t0017a0002c0016t0036others(1): Show | a0002c0002t0045g0113 a0002c0006t0017g0114 a0002c0006t0017g0203 others(2): Show |
5 | 202 | 0.0248 | -3 | c.*31 others(14): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1948 | chr15 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3748848 | CTTT | C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01192.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0001a0002c0039others(3): Show | a0001c0004t0002a0002c0001t0001a0002c0001t0002others(6): Show | a0001c0004t0002g0004 a0002c0001t0001g0007 a0002c0001t0001g0026 others(28): Show |
43 | 184 | 0.2337 | -3 | c.*21 others(14): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 1923 | chr19 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3762375 | ATCT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(43): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0003t0004a0001c0004t0002others(12): Show | a0001c0002t0002g0013 a0001c0002t0002g0092 a0001c0003t0004g0038 others(21): Show |
46 | 448 | 0.1027 | -3 | c.-88 others(12): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 684 | chr19 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3765912 | AAAT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01515.hp1 HG01515.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0003a0001c0004t0001others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0041 a0001c0003t0003g0003 others(8): Show |
16 | 448 | 0.0357 | -3 | c.-44 others(14): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 4221 | chr19 | TogoVar |