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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMDHD2_chr16_2515371_2536417 | 2534793 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0003g0009a0001c0001t0003g0036others(1): Show | 9 | 318 | 0.0283 | 5 | c.*52 others(16): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3377 | chr16 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159164 | T | TATATA | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01433.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0006a0001c0001t0049a0001c0001t0080others(7): Show | a0001c0001t0006g0000a0001c0001t0049g0000a0001c0001t0080g0000others(7): Show | 23 | 416 | 0.0553 | 5 | c.*10 others(18): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2514 | chr13 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47076436 | A | AACTAT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01169.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0004t0008 | a0001c0001t0005g0006a0001c0001t0006g0008a0001c0004t0008g0009 | 32 | 480 | 0.0667 | 5 | c.*99 others(14): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 10 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47076440 | T | TTACTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0002g0017others(25): Show | 373 | 480 | 0.7771 | 5 | c.*99 others(14): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 6 | chr12 | TogoVar | ||||||
AMIGO3_chr3_49711829_49724684 | 49720722 | A | AAAGTC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 334 | 0.0120 | 5 | c.-12 others(16): Show |
AMIGO3 | ENSG00000176020.9 | transcript | ENST00000320431.8 | protein_coding | 1039 | chr3 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31680192 | A | ATTTTC | intron_variant | MODIFIER | NA18942.hp1 NA18944.hp2 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309a0001c0001t0001g0312a0001c0001t0001g0313others(1): Show | 4 | 432 | 0.0093 | 5 | c.704 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31688819 | T | TTAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0084a0001c0001t0001g0085others(34): Show | 42 | 432 | 0.0972 | 5 | c.703 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31692730 | C | CAAGTA | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0377a0001c0001t0005g0378a0001c0001t0005g0379others(2): Show | 5 | 432 | 0.0116 | 5 | c.592 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31694937 | T | TACAAA | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0245a0001c0001t0005g0377a0001c0001t0005g0378others(3): Show | 6 | 432 | 0.0139 | 5 | c.591 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31695487 | C | CTTTCT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(205): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(186): Show | 208 | 432 | 0.4815 | 5 | c.591 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01081.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0030a0001c0001t0002g0131others(16): Show | 20 | 432 | 0.0463 | 5 | c.317 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102928682 | C | CGCGTG | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0026a0001c0001t0002g0026a0001c0001t0004g0026others(3): Show | 6 | 452 | 0.0133 | 5 | c.296 others(18): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AMPD2_chr1_109614837_109637051 | 109615615 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01891.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0069a0001c0001t0001g0070others(8): Show | 15 | 388 | 0.0387 | 5 | c.-49 others(16): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 4221 | chr1 | TogoVar | ||||||
AMPD2_chr1_109614837_109637051 | 109615620 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(28): Show | 57 | 388 | 0.1469 | 5 | c.-49 others(16): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 4216 | chr1 | TogoVar | ||||||
AMPD2_chr1_109614837_109637051 | 109615620 | A | AGAAAG | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02258.hp2 others(17): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0005t0001a0001c0008t0001 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0075others(4): Show | 20 | 388 | 0.0516 | 5 | c.-49 others(16): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 4216 | chr1 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38427649 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01358.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0001a0001c0005t0004others(1): Show | a0001c0001t0004g0106a0001c0001t0004g0244a0001c0005t0001g0120others(6): Show | 9 | 288 | 0.0313 | 5 | c.118 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 14/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0149others(8): Show | 11 | 288 | 0.0382 | 5 | c.590 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38474246 | A | AAAAAT | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 HG03130.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0004a0003c0006t0004g0007a0003c0006t0004g0011others(1): Show | 4 | 288 | 0.0139 | 5 | c.590 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38526433 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0056a0001c0001t0001g0057others(44): Show | 47 | 288 | 0.1632 | 5 | c.150 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38540692 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01192.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0033a0001c0001t0001g0049a0001c0001t0001g0067others(41): Show | 44 | 288 | 0.1528 | 5 | c.70- others(20): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38603314 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0001g0156a0001c0001t0004g0155a0001c0001t0004g0255others(5): Show | 8 | 288 | 0.0278 | 5 | c.69+ others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38610382 | G | GGAAAA | intron_variant | MODIFIER | HG00597.hp2 HG02145.hp2 NA18945.hp2 others(1): Show |
a0001a0002a0008 | a0001c0001a0001c0007a0002c0004others(1): Show | a0001c0001t0001a0001c0007t0005a0002c0004t0005others(1): Show | a0001c0001t0001g0240a0001c0007t0005g0222a0002c0004t0005g0243others(1): Show | 4 | 288 | 0.0139 | 5 | c.69+ others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70521640 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG02080.hp2 others(21): Show |
a0002a0004a0011 | a0002c0003a0004c0005a0011c0013 | a0002c0003t0001a0004c0005t0001a0011c0013t0001 | a0002c0003t0001g0008a0002c0003t0001g0012a0002c0003t0001g0026others(5): Show | 24 | 458 | 0.0524 | 5 | c.55- others(20): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMT_chr3_49411778_49427473 | 49418494 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0028others(10): Show | 166 | 358 | 0.4637 | 5 | c.877 others(20): Show |
AMT | ENSG00000145020.16 | transcript | ENST00000273588.9 | protein_coding | 7/8 | chr3 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2691730 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02055.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0092a0001c0004t0002a0001c0005t0075others(11): Show | a0001c0001t0092g0168a0001c0004t0002g0037a0001c0005t0075g0019others(12): Show | 15 | 438 | 0.0343 | 5 | c.-21 others(24): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANAPC10_chr4_144989576_145103196 | 145011336 | A | AAAAAT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00642.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(57): Show | 60 | 336 | 0.1786 | 5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145011372 | A | AAAATG | intron_variant | MODIFIER | HG02145.hp2 HG03209.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250others(1): Show | 4 | 336 | 0.0119 | 5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026987 | A | ATATAT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0176others(4): Show | 7 | 336 | 0.0208 | 5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026988 | T | TATATA | intron_variant | MODIFIER | HG01258.hp1 HG03669.hp2 HG03831.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0099a0001c0001t0001g0109others(2): Show | 5 | 336 | 0.0149 | 5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72237568 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG01433.hp2 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0021a0001c0002t0022others(3): Show | a0001c0002t0004g0011a0001c0002t0004g0135a0001c0002t0004g0189others(25): Show | 29 | 352 | 0.0824 | 5 | c.*44 others(16): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1709 | chr10 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111763345 | A | AAAAGT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0007a0001c0010a0001c0016others(1): Show | a0001c0007t0007a0001c0010t0007a0001c0016t0007others(1): Show | a0001c0007t0007g0254a0001c0007t0007g0255a0001c0007t0007g0256others(10): Show | 13 | 370 | 0.0351 | 5 | c.*59 others(16): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 4294 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111769675 | C | CTGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0033a0001c0001t0001g0034others(233): Show | 239 | 370 | 0.6460 | 5 | c.572 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 47/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111831826 | C | CCAAAA | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0004a0001c0007t0002 | a0001c0003t0004g0296a0001c0007t0002g0140a0001c0007t0002g0141others(3): Show | 6 | 370 | 0.0162 | 5 | c.247 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 20/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111838085 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(51): Show |
a0001a0002a0004 | a0001c0003a0001c0007a0001c0016others(2): Show | a0001c0003t0004a0001c0003t0018a0001c0003t0019others(5): Show | a0001c0003t0004g0262a0001c0003t0004g0263a0001c0003t0004g0264others(51): Show | 54 | 370 | 0.1460 | 5 | c.211 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 18/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111843820 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01106.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0003t0004a0001c0004t0003others(1): Show | a0001c0002t0002g0152a0001c0002t0002g0201a0001c0002t0002g0219others(13): Show | 16 | 370 | 0.0432 | 5 | c.185 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111864462 | A | ATATAC | intron_variant | MODIFIER | HG01070.hp2 HG02572.hp2 HG03239.hp1 others(2): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0002a0001c0003t0004a0001c0006t0005others(2): Show | a0001c0002t0002g0199a0001c0003t0004g0288a0001c0006t0005g0031others(2): Show | 5 | 370 | 0.0135 | 5 | c.831 others(20): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 8/47 | chr2 | TogoVar | ||||||
ANAPC4_chr4_25372263_25423498 | 25377246 | C | CGGCGG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0015others(47): Show | 82 | 456 | 0.1798 | 5 | c.-10 others(14): Show |
ANAPC4 | ENSG00000053900.11 | transcript | ENST00000315368.8 | protein_coding | 16 | chr4 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382457 | A | ATATAT | intron_variant | MODIFIER | HG01192.hp2 HG04184.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0052a0001c0001t0001g0124 | 3 | 298 | 0.0101 | 5 | c.935 others(20): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANGEL1_chr14_76781009_76817882 | 76799278 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp2 others(18): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0004a0002c0002t0003a0002c0002t0021others(1): Show | a0001c0006t0004g0226a0002c0002t0003g0018a0002c0002t0003g0229others(16): Show | 21 | 396 | 0.0530 | 5 | c.161 others(24): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996622 | C | CAAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0250a0001c0001t0003g0260a0001c0001t0004g0127 | 3 | 392 | 0.0077 | 5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996634 | A | ATATAT | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01261.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0002a0008c0008t0002 | a0001c0001t0002g0165a0001c0001t0002g0169a0001c0001t0002g0186others(2): Show | 5 | 392 | 0.0128 | 5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996636 | A | ATATAT | intron_variant | MODIFIER | HG02486.hp2 HG02602.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0014 | a0001c0001t0002g0065a0001c0001t0002g0166a0001c0001t0002g0176others(2): Show | 6 | 392 | 0.0153 | 5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996638 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0039a0001c0001t0002g0191a0001c0001t0004g0184 | 4 | 392 | 0.0102 | 5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107249611 | T | TAAATG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(114): Show | 117 | 292 | 0.4007 | 5 | c.*22 others(16): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 9/9 | 2243 | chr8 | TogoVar | |||||
ANGPT1_chr8_107244482_107502918 | 107291409 | G | GTGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(64): Show | 67 | 292 | 0.2295 | 5 | c.103 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 6/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370407 | A | AGGAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(114): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(114): Show | 117 | 292 | 0.4007 | 5 | c.298 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107372182 | T | TATAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(260): Show | 264 | 292 | 0.9041 | 5 | c.298 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107380456 | C | CATCTA | intron_variant | MODIFIER | HG02818.hp2 NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0216a0001c0001t0002g0231a0001c0001t0004g0221 | 3 | 292 | 0.0103 | 5 | c.298 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107459772 | C | CTAGAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0068a0001c0001t0001g0072others(20): Show | 23 | 292 | 0.0788 | 5 | c.297 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505318 | A | ATATAT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0045 | a0001c0005t0002g0059a0001c0005t0002g0158a0001c0005t0002g0203others(1): Show | 4 | 336 | 0.0119 | 5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar |