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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADSL_chr22_40341500_40374367 | 40345612 | CTA | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0017a0001c0001t0001g0037a0001c0001t0001g0061others(3): Show | 8 | 302 | 0.0265 | -2 | c.-94 others(11): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 887 | chr22 | TogoVar | ||||||
ADSL_chr22_40341500_40374367 | 40346117 | CTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(40): Show | 84 | 302 | 0.2782 | -2 | c.-44 others(11): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 382 | chr22 | TogoVar | ||||||
ADSL_chr22_40341500_40374367 | 40359476 | CTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02040.hp2 HG02129.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027a0001c0001t0001g0051a0001c0001t0001g0053others(2): Show | 8 | 302 | 0.0265 | -2 | c.701 others(17): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ADSL_chr22_40341500_40374367 | 40372122 | CTT | C | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0017others(14): Show | 22 | 302 | 0.0729 | -2 | c.*56 others(13): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 2756 | chr22 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104730958 | TGG | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01074.hp2 others(22): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0002t0001a0007c0012t0001 | a0001c0001t0001g0019a0001c0001t0001g0140a0001c0001t0001g0148others(20): Show | 25 | 402 | 0.0622 | -2 | c.193 others(19): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADSS1_chr14_104719229_104752310 | 104735541 | CTG | C | intron_variant | MODIFIER | HG02132.hp2 HG02738.hp1 NA18952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0023a0001c0004t0001g0284a0001c0004t0001g0290others(1): Show | 6 | 402 | 0.0149 | -2 | c.295 others(17): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADSS1_chr14_104719229_104752310 | 104736881 | GAT | G | intron_variant | MODIFIER | NA18983.hp2 NA19012.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0095a0001c0001t0002g0127 | 4 | 402 | 0.0100 | -2 | c.296 others(19): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADSS1_chr14_104719229_104752310 | 104740808 | CAG | C | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0140a0001c0001t0001g0148a0001c0001t0001g0152others(8): Show | 11 | 402 | 0.0274 | -2 | c.585 others(15): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 6/12 | chr14 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104748838 | CAA | C | downstream_gene_variant | MODIFIER | HG02132.hp2 HG02738.hp1 NA19010.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0284a0001c0004t0001g0290a0001c0004t0001g0291 | 3 | 402 | 0.0075 | -2 | c.*18 others(13): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1529 | chr14 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244425660 | CCT | C | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0076a0001c0001t0001g0164others(1): Show | 6 | 408 | 0.0147 | -2 | c.407 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 4/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244432660 | CTT | C | intron_variant | MODIFIER | HG02083.hp2 NA18964.hp2 NA18998.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025a0001c0001t0004g0050a0001c0001t0004g0051others(3): Show | 10 | 408 | 0.0245 | -2 | c.356 others(15): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244435168 | CAA | C | intron_variant | MODIFIER | HG00597.hp1 HG02895.hp1 HG04199.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0079a0001c0001t0001g0098others(4): Show | 8 | 408 | 0.0196 | -2 | c.355 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244437490 | TAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 5 | 408 | 0.0123 | -2 | c.286 others(17): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244441967 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01952.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012a0001c0001t0003g0018a0001c0001t0003g0112others(1): Show | 9 | 408 | 0.0221 | -2 | c.184 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244442242 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(237): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 240 | 408 | 0.5882 | -2 | c.184 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11711641 | TAA | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(80): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0155a0001c0001t0002g0109a0001c0001t0002g0161others(79): Show | 83 | 410 | 0.2024 | -2 | c.*28 others(13): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 1881 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11713980 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(155): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(148): Show | 158 | 410 | 0.3854 | -2 | c.*49 others(11): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 6/6 | 496 | chr6 | TogoVar | |||||
ADTRP_chr6_11708523_11783803 | 11715648 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01074.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0016a0001c0001t0002g0021a0001c0001t0002g0052others(22): Show | 25 | 410 | 0.0610 | -2 | c.659 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11716880 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(76): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0002c0002t0003a0002c0002t0009others(2): Show | a0001c0001t0002g0106a0001c0001t0002g0246a0001c0001t0002g0311others(74): Show | 79 | 410 | 0.1927 | -2 | c.659 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11734706 | ACT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01074.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0052a0001c0001t0002g0053others(19): Show | 22 | 410 | 0.0537 | -2 | c.506 others(17): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11735747 | TTC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(74): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0003a0002c0002t0009a0002c0002t0011others(1): Show | a0002c0002t0003g0007a0002c0002t0003g0026a0002c0002t0003g0036others(73): Show | 77 | 410 | 0.1878 | -2 | c.391 others(15): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11745170 | ATC | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(120): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0041others(118): Show | 123 | 410 | 0.3000 | -2 | c.391 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11752788 | CTG | C | intron_variant | MODIFIER | NA18950.hp1 NA18951.hp1 NA18987.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073a0002c0002t0003g0267a0002c0002t0003g0268 | 3 | 410 | 0.0073 | -2 | c.390 others(21): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11777246 | TTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(245): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(238): Show | 248 | 410 | 0.6049 | -2 | c.153 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11781261 | CTT | C | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02886.hp1 NA18949.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0021a0001c0001t0002g0196a0001c0001t0002g0197others(3): Show | 6 | 410 | 0.0146 | -2 | c.-25 others(13): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 2459 | chr6 | TogoVar | ||||||
AEBP1_chr7_44099345_44119560 | 44100176 | CAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0024others(21): Show | 90 | 426 | 0.2113 | -2 | c.-44 others(13): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 4168 | chr7 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19441089 | CAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02602.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0260a0001c0001t0001g0261a0001c0001t0036g0262 | 3 | 404 | 0.0074 | -2 | c.671 others(17): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19445370 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(106): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(105): Show | 109 | 404 | 0.2698 | -2 | c.671 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19446732 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(268): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0061others(267): Show | 271 | 404 | 0.6708 | -2 | c.671 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19447687 | TTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(322): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(321): Show | 325 | 404 | 0.8045 | -2 | c.671 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19451686 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(97): Show | 101 | 404 | 0.2500 | -2 | c.672 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19454359 | CCA | C | intron_variant | MODIFIER | NA18952.hp2 NA18957.hp1 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0038 | a0001c0001t0002g0171a0001c0002t0001g0102a0001c0002t0038g0059 | 3 | 404 | 0.0074 | -2 | c.672 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19463667 | ATT | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01074.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(45): Show | 48 | 404 | 0.1188 | -2 | c.879 others(17): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19465791 | CTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0051a0001c0001t0001g0248a0001c0001t0002g0220others(7): Show | 10 | 404 | 0.0248 | -2 | c.879 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19468126 | TTG | T | intron_variant | MODIFIER | HG01934.hp2 NA18960.hp2 NA18967.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0010a0001c0006t0033 | a0001c0001t0002g0225a0001c0001t0010g0060a0001c0006t0033g0041 | 3 | 404 | 0.0074 | -2 | c.880 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19473759 | TAA | T | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | -2 | c.987 others(17): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19476530 | CAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(74): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(74): Show | 77 | 404 | 0.1906 | -2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19479717 | GTT | G | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01243.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0016others(4): Show | a0001c0001t0005g0133a0001c0001t0005g0135a0001c0001t0005g0137others(21): Show | 24 | 404 | 0.0594 | -2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19481092 | CTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0035 | a0001c0001t0012g0335a0001c0001t0013g0156a0001c0001t0013g0157others(4): Show | 7 | 404 | 0.0173 | -2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19484250 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(244): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0090others(243): Show | 247 | 404 | 0.6114 | -2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19485948 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01167.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0022others(1): Show | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0001t0005g0131others(32): Show | 35 | 404 | 0.0866 | -2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19489731 | CTG | C | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | -2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19495547 | CTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0035 | a0001c0001t0013g0156a0001c0001t0013g0157a0001c0001t0013g0158others(3): Show | 6 | 404 | 0.0149 | -2 | c.117 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19496160 | CTT | C | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | -2 | c.117 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19501648 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(91): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(90): Show | 94 | 404 | 0.2327 | -2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19501797 | GTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0041others(3): Show | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0001g0242others(12): Show | 15 | 404 | 0.0371 | -2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19509820 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0312others(80): Show | 84 | 404 | 0.2079 | -2 | c.130 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19512669 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0016others(4): Show | a0001c0001t0006g0005a0001c0001t0006g0006a0001c0001t0006g0007others(32): Show | 35 | 404 | 0.0866 | -2 | c.136 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19513892 | ATT | A | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01109.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0041others(10): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(68): Show | 71 | 404 | 0.1757 | -2 | c.136 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19518218 | CTT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0031 | a0001c0001t0014g0020a0001c0001t0014g0025a0001c0001t0014g0027others(3): Show | 6 | 404 | 0.0149 | -2 | c.*12 others(11): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 8/8 | 120 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |