| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AP5M1_chr14_57263971_57303742 | 57300718 | ATTT | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG01123.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0031a0001c0002t0049 | a0001c0002t0002g0005a0001c0002t0002g0021a0001c0002t0002g0042others(6): Show | 9 | 280 | 0.0321 | -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 | a0001c0001t0006g0005a0001c0001t0006g0006a0001c0001t0006g0010others(13): Show | 24 | 412 | 0.0583 | -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 | a0001c0001t0002g0009a0001c0001t0006g0009a0001c0002t0003g0008others(3): Show | 10 | 340 | 0.0294 | -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 | a0001c0002t0027g0088a0001c0005t0009g0031a0001c0005t0009g0032others(4): Show | 8 | 340 | 0.0235 | -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 | a0001c0002t0003g0075a0001c0014t0006g0096a0001c0014t0029g0093others(21): Show | 34 | 340 | 0.1000 | -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 | a0001c0001t0049g0087a0001c0005t0009g0031a0001c0005t0009g0032others(4): Show | 8 | 340 | 0.0235 | -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 | a0001c0002t0003g0007a0001c0002t0003g0073a0001c0002t0018g0071others(1): Show | 5 | 340 | 0.0147 | -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 | a0001c0001t0001g0003a0001c0001t0001g0289a0001c0001t0001g0290 | 4 | 366 | 0.0109 | -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 | a0001c0001t0001g0251a0001c0001t0001g0294a0001c0001t0007g0250others(4): Show | 7 | 366 | 0.0191 | -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 | a0001c0001t0001g0019a0001c0001t0001g0057a0001c0001t0001g0230 | 3 | 366 | 0.0082 | -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(67): Show |
a0001a0005a0007 | a0001c0001a0005c0008a0007c0011 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0003g0125a0001c0001t0003g0130a0001c0001t0003g0131others(67): Show | 70 | 366 | 0.1913 | -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 |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0002g0018a0001c0001t0002g0034a0001c0001t0002g0036others(64): Show | 67 | 210 | 0.3191 | -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 | a0001c0001t0008g0069a0001c0001t0008g0070a0001c0001t0008g0071others(2): Show | 5 | 210 | 0.0238 | -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 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0037g0210 | 3 | 210 | 0.0143 | -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 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0003g0093others(19): Show | 22 | 210 | 0.1048 | -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(49): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(49): Show | 52 | 210 | 0.2476 | -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 | a0001c0001t0002g0018a0001c0001t0002g0087a0001c0001t0002g0089others(10): Show | 13 | 210 | 0.0619 | -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 | a0001c0001t0002g0052a0001c0001t0002g0053a0001c0001t0002g0055others(4): Show | 7 | 210 | 0.0333 | -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 | a0001c0001t0012g0199a0002c0002t0008g0198a0002c0002t0008g0201others(3): Show | 6 | 204 | 0.0294 | -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 | a0001c0001t0039g0188a0002c0003t0006g0189 | 2 | 204 | 0.0098 | -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 | a0001c0001t0002g0190a0001c0001t0003g0173a0001c0001t0003g0186others(9): Show | 12 | 204 | 0.0588 | -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 | a0001c0001t0001g0007a0001c0001t0001g0030a0001c0001t0001g0036others(19): Show | 22 | 204 | 0.1078 | -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 | a0001c0001t0008g0163a0001c0001t0008g0194 | 2 | 204 | 0.0098 | -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 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0021others(11): Show | 14 | 204 | 0.0686 | -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 | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0059others(16): Show | 19 | 204 | 0.0931 | -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 | a0001c0001t0008g0163a0001c0001t0008g0194a0002c0006t0017g0114 | 3 | 204 | 0.0147 | -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 | a0001c0001t0002g0190a0001c0001t0003g0186a0002c0016t0036g0001 | 3 | 204 | 0.0147 | -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 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(144): Show | 147 | 204 | 0.7206 | -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 | a0001c0001t0002g0138a0001c0001t0007g0139 | 2 | 204 | 0.0098 | -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 | a0002c0002t0003g0172a0002c0002t0010g0072a0002c0002t0010g0073others(4): Show | 7 | 204 | 0.0343 | -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 | a0002c0002t0003g0204a0005c0010t0037g0175 | 2 | 204 | 0.0098 | -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 | a0002c0002t0006g0093a0002c0012t0010g0027 | 2 | 204 | 0.0098 | -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 | a0001c0001t0006g0160a0001c0001t0012g0199a0001c0001t0039g0188others(22): Show | 25 | 204 | 0.1226 | -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 | a0001c0001t0003g0164a0001c0001t0003g0196a0001c0001t0031g0055 | 3 | 204 | 0.0147 | -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 | a0001c0001t0003g0131a0001c0001t0003g0142a0001c0001t0003g0157others(25): Show | 28 | 204 | 0.1373 | -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 | a0002c0002t0045g0113a0002c0006t0017g0114a0002c0006t0017g0203others(2): Show | 5 | 204 | 0.0245 | -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 | a0001c0004t0002g0004a0002c0001t0001g0008a0002c0001t0001g0026others(28): Show | 43 | 450 | 0.0956 | -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(44): Show |
a0001a0002a0007others(6): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0003t0004a0001c0004t0002others(12): Show | a0001c0002t0002g0013a0001c0002t0002g0092a0001c0003t0004g0038others(21): Show | 47 | 450 | 0.1044 | -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 | a0001c0002t0001g0002a0001c0002t0001g0041a0001c0003t0003g0003others(8): Show | 16 | 450 | 0.0356 | -3 | c.-44 others(14): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 4221 | chr19 | TogoVar | ||||||
| APBB1IP_chr10_26433341_26572803 | 26437311 | GTTA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(98): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0009 | a0001c0001t0001a0001c0001t0005a0003c0003t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(98): Show | 101 | 358 | 0.2821 | -3 | c.-13 others(14): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1029 | chr10 | TogoVar | ||||||
| APBB1IP_chr10_26433341_26572803 | 26445129 | AAAG | A | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00673.hp1 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0118a0001c0001t0001g0149a0001c0001t0001g0150others(36): Show | 39 | 358 | 0.1089 | -3 | c.-1+ others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26454546 | TAGA | T | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp1 HG02258.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0002a0001c0014t0006a0002c0002t0002others(4): Show | a0001c0001t0002g0338a0001c0001t0002g0343a0001c0001t0002g0344others(18): Show | 21 | 358 | 0.0587 | -3 | c.-1+ others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26469258 | CTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG02145.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0122others(3): Show | 6 | 358 | 0.0168 | -3 | c.1-2 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26476446 | CAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02572.hp1 others(6): Show |
a0001a0005a0007 | a0001c0001a0005c0004a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0163a0001c0001t0001g0164others(6): Show | 9 | 358 | 0.0251 | -3 | c.1-1 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26506248 | TGTG | T | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01123.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0085a0001c0001t0001g0101others(25): Show | 28 | 358 | 0.0782 | -3 | c.531 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26526720 | AAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0016others(47): Show | 50 | 358 | 0.1397 | -3 | c.814 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26567284 | CCCG | C | disruptive_inframe_deletion | MODERATE | HG02622.hp2 HG02922.hp2 HG03041.hp1 others(1): Show |
a0004 | a0004c0005a0004c0013 | a0004c0005t0002a0004c0013t0002 | a0004c0005t0002g0298a0004c0005t0002g0305a0004c0005t0002g0306others(1): Show | 4 | 358 | 0.0112 | -3 | c.181 others(12): Show |
p.Pro others(6): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 15/15 | 2132/2633 | 1815/2001 | 605/666 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| APBB1_chr11_6390125_6424094 | 6392486 | CTTT | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0172a0001c0001t0001g0179a0001c0001t0001g0212others(10): Show | 13 | 416 | 0.0313 | -3 | c.*30 others(14): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 2638 | chr11 | TogoVar | ||||||
| APBB1_chr11_6390125_6424094 | 6395774 | CTAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(36): Show |
a0001a0002a0007 | a0001c0001a0001c0013a0002c0003others(1): Show | a0001c0001t0001a0001c0013t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0039others(30): Show | 39 | 416 | 0.0938 | -3 | c.196 others(17): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| APBB2_chr4_40805027_41219542 | 40811530 | ACTC | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(35): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0004a0001c0002t0018a0001c0002t0022others(20): Show | a0001c0002t0004g0028a0001c0002t0004g0108a0001c0002t0004g0170others(35): Show | 38 | 192 | 0.1979 | -3 | c.*45 others(14): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 18/18 | 4559 | chr4 | TogoVar |