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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APLF_chr2_68462585_68585162 | 68518711 | CAAT | C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0089a0001c0001t0015g0090 | 2 | 176 | 0.0114 | -3 | c.622 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68518764 | TTAA | T | intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0038a0002c0002t0002g0039a0002c0002t0012g0021 | 3 | 176 | 0.0171 | -3 | c.622 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68518962 | CATA | C | intron_variant | MODIFIER | HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0023a0002c0002t0008g0025 | 2 | 176 | 0.0114 | -3 | c.622 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68519094 | TATA | T | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(11): Show |
a0004a0011 | a0004c0004a0011c0015 | a0004c0004t0003a0011c0015t0013 | a0004c0004t0003g0008a0004c0004t0003g0009a0004c0004t0003g0010others(11): Show | 14 | 176 | 0.0796 | -3 | c.622 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68538002 | AAAG | A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01109.hp2 HG01192.hp2 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0014 | a0005c0005t0001g0144a0005c0005t0001g0149a0005c0005t0001g0153others(2): Show | 5 | 176 | 0.0284 | -3 | c.938 others(10): Show |
p.Arg others(6): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/10 | 1085/3823 | 938/1536 | 313/511 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
APLF_chr2_68462585_68585162 | 68538642 | TTGA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(27): Show |
a0002a0010a0012 | a0002c0002a0002c0011a0010c0014others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0009others(3): Show | a0002c0002t0002g0033a0002c0002t0002g0034a0002c0002t0002g0035others(25): Show | 30 | 176 | 0.1705 | -3 | c.116 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68541339 | TAGA | T | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0167a0002c0002t0010g0168a0002c0002t0010g0169 | 3 | 176 | 0.0171 | -3 | c.116 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68548868 | TTCA | T | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0023a0002c0002t0008g0024a0002c0002t0008g0025 | 3 | 176 | 0.0171 | -3 | c.128 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68560989 | ATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0023a0002c0002t0008g0024a0002c0002t0008g0025 | 3 | 176 | 0.0171 | -3 | c.128 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68570285 | TTAA | T | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0008a0004c0004t0003g0009a0004c0004t0003g0010others(10): Show | 13 | 176 | 0.0739 | -3 | c.133 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLNR_chr11_57228591_57242250 | 57239109 | CAAA | C | upstream_gene_variant | MODIFIER | HG01070.hp2 NA18965.hp1 NA18972.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(1): Show | 9 | 430 | 0.0209 | -3 | c.-21 others(14): Show |
APLNR | ENSG00000134817.12 | transcript | ENST00000606794.2 | protein_coding | 1860 | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130065427 | CTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0129a0001c0001t0004g0255a0001c0001t0004g0256others(4): Show | 7 | 274 | 0.0256 | -3 | c.-45 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 4466 | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130067080 | CTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02074.hp1 HG02630.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0001t0001g0153others(11): Show | 14 | 274 | 0.0511 | -3 | c.-28 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 2813 | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130067704 | CCTA | C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02897.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0011 | a0002c0002t0001g0252a0002c0002t0001g0253a0003c0003t0011g0249 | 3 | 274 | 0.0110 | -3 | c.-22 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 2189 | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130083023 | TTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG02080.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0004c0004t0003 | a0001c0001t0001g0143a0001c0001t0001g0153a0001c0001t0001g0155others(6): Show | 9 | 274 | 0.0329 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130083026 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp2 HG01496.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(19): Show | 22 | 274 | 0.0803 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130084287 | ATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00673.hp1 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0126a0001c0001t0001g0141a0001c0001t0001g0142others(51): Show | 54 | 274 | 0.1971 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130104206 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(48): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0152others(46): Show | 51 | 274 | 0.1861 | -3 | c.106 others(20): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130138753 | ATTT | A | intron_variant | MODIFIER | HG02040.hp2 HG02630.hp2 HG02818.hp2 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(2): Show | a0001c0001t0001g0091a0001c0001t0002g0190a0002c0002t0008g0265others(4): Show | 7 | 274 | 0.0256 | -3 | c.183 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APMAP_chr20_24957925_24997751 | 24959885 | ACCT | A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02896.hp2 others(7): Show |
a0001a0003a0004 | a0001c0018a0003c0005a0004c0006 | a0001c0018t0001a0003c0005t0001a0004c0006t0001 | a0001c0018t0001g0152a0003c0005t0001g0021a0003c0005t0001g0046others(3): Show | 10 | 290 | 0.0345 | -3 | c.*39 others(14): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 3039 | chr20 | TogoVar | ||||||
APMAP_chr20_24957925_24997751 | 24964443 | AGGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0004a0005c0007others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(73): Show | 143 | 290 | 0.4931 | -3 | c.104 others(20): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
APOA1_chr11_116830751_116842622 | 116831241 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0003c0003t0001g0008 | 7 | 448 | 0.0156 | -3 | c.*45 others(14): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4509 | chr11 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161220994 | TTTG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(1): Show | 97 | 430 | 0.2256 | -3 | c.*14 others(14): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 1297 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161221660 | CTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(2): Show | 30 | 430 | 0.0698 | -3 | c.*74 others(12): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 631 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161225919 | CTTT | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 12 | 430 | 0.0279 | -3 | c.-23 others(14): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2292 | chr1 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116824795 | ATTT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01099.hp2 others(39): Show |
a0001a0003a0010 | a0001c0001a0001c0010a0003c0007others(1): Show | a0001c0001t0001a0001c0010t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0010t0001g0014others(2): Show | 42 | 462 | 0.0909 | -3 | c.-16 others(14): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 1492 | chr11 | TogoVar | ||||||
APOA5_chr11_116784367_116796879 | 116795558 | AAAC | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01346.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0006 | a0001c0001t0004g0004a0002c0002t0006g0008 | 10 | 476 | 0.0210 | -3 | c.-37 others(14): Show |
APOA5 | ENSG00000110243.12 | transcript | ENST00000227665.9 | protein_coding | 3680 | chr11 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7651611 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(103): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0220a0001c0003t0001g0001a0001c0003t0001g0003others(93): Show | 106 | 432 | 0.2454 | -3 | c.443 others(18): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7653489 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(146): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0010a0001c0002t0001g0014a0001c0002t0001g0024others(140): Show | 149 | 432 | 0.3449 | -3 | c.45- others(16): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7664900 | TAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0057a0001c0002t0001g0067a0001c0002t0001g0072others(14): Show | 17 | 432 | 0.0394 | -3 | c.16+ others(16): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7670754 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00741.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0057a0001c0002t0001g0067a0001c0002t0001g0073others(18): Show | 21 | 432 | 0.0486 | -3 | c.-48 others(14): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4847 | chr12 | TogoVar | ||||||
APOBEC2_chr6_41048202_41069891 | 41060143 | CTTG | C | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 3 | 360 | 0.0083 | -3 | c.132 others(20): Show |
APOBEC2 | ENSG00000124701.6 | transcript | ENST00000244669.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
APOBEC3A_chr22_38952609_38968184 | 38958868 | TTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0009a0001c0005t0015 | a0001c0005t0001g0009a0001c0005t0009g0009a0001c0005t0015g0009 | 10 | 360 | 0.0278 | -3 | c.30- others(16): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3C_chr22_39009257_39025352 | 39009794 | CCTT | C | upstream_gene_variant | MODIFIER | NA18941.hp1 NA18950.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001a0001c0001t0004g0001 | 3 | 460 | 0.0065 | -3 | c.-45 others(14): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4462 | chr22 | TogoVar | ||||||
APOBEC3C_chr22_39009257_39025352 | 39018818 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(67): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(10): Show | a0001c0001t0003g0001a0001c0001t0003g0004a0001c0001t0003g0007others(40): Show | 70 | 460 | 0.1522 | -3 | c.*45 others(12): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4/4 | 456 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
APOBEC3D_chr22_39016127_39038277 | 39018818 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(67): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0016others(42): Show | 70 | 458 | 0.1528 | -3 | c.-27 others(14): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 2308 | chr22 | TogoVar | ||||||
APOBEC3D_chr22_39016127_39038277 | 39025104 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp1 HG01099.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0012 | a0004c0004t0001g0173a0004c0004t0001g0175a0004c0004t0012g0172 | 3 | 458 | 0.0066 | -3 | c.249 others(10): Show |
p.Phe others(5): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 3/7 | 642/2515 | 249/1161 | 83/386 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
APOBEC3D_chr22_39016127_39038277 | 39032589 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(251): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(114): Show | 254 | 458 | 0.5546 | -3 | c.*29 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 293 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
APOBEC3D_chr22_39016127_39038277 | 39032756 | CTAA | C | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0033a0001c0001t0045others(3): Show | a0001c0001t0010g0010a0001c0001t0010g0015a0001c0001t0010g0053others(10): Show | 13 | 458 | 0.0284 | -3 | c.*44 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 442 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
APOBEC3D_chr22_39016127_39038277 | 39032759 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01109.hp2 others(43): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(6): Show | a0001c0001t0004g0001a0001c0001t0004g0002a0001c0001t0004g0005others(31): Show | 46 | 458 | 0.1004 | -3 | c.*46 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 468 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
APOBEC3D_chr22_39016127_39038277 | 39037834 | GAAA | G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0022a0001c0001t0025a0001c0001t0034others(3): Show | a0001c0001t0022g0012a0001c0001t0025g0056a0001c0001t0025g0153others(4): Show | 8 | 458 | 0.0175 | -3 | c.*55 others(14): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 4558 | chr22 | TogoVar | ||||||
APOBEC3F_chr22_39035864_39060972 | 39037834 | GAAA | G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02109.hp1 others(5): Show |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0010a0003c0005t0012a0003c0005t0028others(1): Show | a0003c0005t0010g0011a0003c0005t0012g0011a0003c0005t0012g0146others(3): Show | 8 | 422 | 0.0190 | -3 | c.-31 others(14): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 3029 | chr22 | TogoVar | ||||||
APOBEC3F_chr22_39035864_39060972 | 39042307 | TCTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00673.hp1 others(42): Show |
a0002a0004 | a0002c0002a0004c0014 | a0002c0002t0002a0002c0002t0009a0002c0002t0044others(1): Show | a0002c0002t0002g0004a0002c0002t0002g0018a0002c0002t0002g0055others(17): Show | 45 | 422 | 0.1066 | -3 | c.18- others(16): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
APOBEC3F_chr22_39035864_39060972 | 39049006 | AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(260): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(131): Show | 263 | 422 | 0.6232 | -3 | c.567 others(18): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3H_chr22_39092244_39109067 | 39097521 | ACTG | A | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01928.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0018a0004c0004t0002g0042 | 6 | 418 | 0.0144 | -3 | c.-8+ others(16): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3H_chr22_39092244_39109067 | 39100317 | TAAC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
a0003a0004a0005others(3): Show | a0003c0003a0004c0004a0005c0008others(3): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0004others(8): Show | a0003c0003t0002g0003a0003c0003t0002g0008a0003c0003t0002g0010others(50): Show | 129 | 418 | 0.3086 | -3 | c.45_ others(8): Show |
p.Asn others(5): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 2/5 | 152/1029 | 45/552 | 15/183 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
APOBEC3H_chr22_39092244_39109067 | 39102474 | TCTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
a0002a0010a0013 | a0002c0002a0010c0009a0013c0013 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0051a0002c0002t0002g0067a0002c0002t0003g0006others(21): Show | 69 | 418 | 0.1651 | -3 | c.543 others(18): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3H_chr22_39092244_39109067 | 39104791 | AAAC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01175.hp1 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0051a0002c0002t0002g0067a0002c0002t0003g0007others(9): Show | 35 | 418 | 0.0837 | -3 | c.*10 others(14): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 725 | chr22 | TogoVar | ||||||
APOBR_chr16_28489643_28503964 | 28496093 | GGGA | G | disruptive_inframe_deletion | MODERATE | HG01106.hp2 HG01891.hp1 HG02257.hp1 others(17): Show |
a0005a0010a0013others(1): Show | a0005c0009a0005c0057a0005c0058others(4): Show | a0005c0009t0001a0005c0057t0001a0005c0058t0001others(4): Show | a0005c0009t0001g0001a0005c0057t0001g0001a0005c0058t0001g0001others(4): Show | 20 | 406 | 0.0493 | -3 | c.105 others(12): Show |
p.Glu others(6): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1097/3792 | 1058/3294 | 353/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
APOBR_chr16_28489643_28503964 | 28501560 | CCCA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(26): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0003t0001g0001a0001c0006t0001g0001others(2): Show | 29 | 406 | 0.0714 | -3 | c.*30 others(14): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2597 | chr16 | TogoVar |