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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APBA1_chr9_69422532_69677371 | 69517283 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(83): Show | 86 | 210 | 0.4095 | 0 | c.-69 others(5): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3752508 | G | A | splice_region_variant others(1): Show |
LOW | NA18970.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0132 | 1 | 450 | 0.0022 | 0 | c.139 others(4): Show |
p.Arg others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 8/11 | 1589/2176 | 1395/1728 | 465/575 | chr19 | TogoVar | ||
APBA3_chr19_3745772_3766692 | 3752994 | C | T | splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0018 | a0018c0024 | a0018c0024t0003 | a0018c0024t0003g0180 | 1 | 450 | 0.0022 | 0 | c.101 others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 6/10 | chr19 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3754340 | A | C | missense_variant others(1): Show |
MODERATE | HG01891.hp2 HG02055.hp2 HG02145.hp1 others(14): Show |
a0003a0011a0012others(3): Show | a0003c0006a0003c0017a0011c0014others(4): Show | a0003c0006t0002a0003c0006t0015a0003c0017t0009others(5): Show | a0003c0006t0002g0021a0003c0006t0002g0083a0003c0006t0002g0084others(10): Show | 17 | 450 | 0.0378 | 0 | c.617 others(3): Show |
p.Val others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 4/11 | 811/2176 | 617/1728 | 206/575 | chr19 | TogoVar | ||
APBA3_chr19_3745772_3766692 | 3759557 | T | TTCACCCC others(3): Show |
splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0018 | a0018c0024 | a0018c0024t0003 | a0018c0024t0003g0180 | 1 | 450 | 0.0022 | 10 | c.616 others(21): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3759607 | G | T | splice_region_variant others(1): Show |
LOW | NA19085.hp1 NA19088.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0128a0001c0004t0001g0129 | 2 | 450 | 0.0044 | 0 | c.577 others(5): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/10 | chr19 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26438460 | G | GGGAGGGA others(7): Show |
splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(245): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(245): Show | 248 | 358 | 0.6927 | 14 | c.-20 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26438463 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(245): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(245): Show | 248 | 358 | 0.6927 | 0 | c.-20 others(6): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40934606 | T | G | splice_region_variant others(1): Show |
LOW | NA19009.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069 | 1 | 192 | 0.0052 | 0 | c.119 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 9/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40935145 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0002 | a0002c0001 | a0002c0001t0044 | a0002c0001t0044g0190 | 1 | 192 | 0.0052 | 0 | c.104 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41014404 | G | A | splice_region_variant others(1): Show |
LOW | HG01169.hp1 HG02630.hp2 HG02647.hp1 others(8): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0005a0002c0005t0006others(4): Show | a0002c0005t0001g0100a0002c0005t0001g0142a0002c0005t0001g0149others(8): Show | 11 | 192 | 0.0573 | 0 | c.20- others(4): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41214399 | G | C | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01099.hp1 HG01106.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0013a0001c0004t0013a0002c0001t0010others(1): Show | a0001c0003t0013g0024a0001c0004t0013g0022a0002c0001t0010g0025others(1): Show | 4 | 192 | 0.0208 | 0 | c.-41 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB3_chr5_140553268_140569598 | 140560760 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03195.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0004a0001c0012t0007 | a0001c0002t0004g0024a0001c0012t0007g0027 | 3 | 412 | 0.0073 | 0 | c.917 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
APBB3_chr5_140553268_140569598 | 140561857 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 1 | 412 | 0.0024 | 0 | c.627 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
APBB3_chr5_140553268_140569598 | 140562656 | T | A | splice_region_variant others(1): Show |
LOW | HG01496.hp2 HG02717.hp2 HG02809.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0002a0003c0006t0002 | a0001c0002t0002g0053a0003c0006t0002g0014a0003c0006t0002g0049others(1): Show | 7 | 412 | 0.0170 | 0 | c.351 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 4/12 | chr5 | TogoVar | ||||||
APC2_chr19_1445121_1478244 | 1462181 | G | A | splice_region_variant others(1): Show |
LOW | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 350 | 0.0029 | 0 | c.185 others(6): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 14/14 | chr19 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58470611 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0009a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0006a0001c0001t0001g0134a0001c0001t0001g0136others(166): Show | 172 | 376 | 0.4575 | 0 | c.186 others(3): Show |
p.Thr others(5): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 2/4 | 878/3887 | 186/1506 | 62/501 | chr20 | TogoVar | ||
APCDD1_chr18_10449635_10494949 | 10471524 | G | A | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG01433.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0005 | a0001c0001t0002g0126a0001c0002t0001g0172a0001c0002t0005g0078others(4): Show | 7 | 422 | 0.0166 | 0 | c.243 others(5): Show |
APCDD1 | ENSG00000154856.13 | transcript | ENST00000355285.10 | protein_coding | 2/4 | chr18 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112775612 | TA | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01515.hp1 HG02293.hp1 others(8): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0008t0002others(3): Show | a0001c0001t0001g0204a0001c0003t0002g0056a0001c0003t0002g0062others(8): Show | 11 | 294 | 0.0374 | -1 | c.423 others(6): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112835173 | T | C | splice_region_variant others(1): Show |
LOW | HG02056.hp1 HG02132.hp1 HG02155.hp2 others(11): Show |
a0001 | a0001c0003a0001c0019 | a0001c0003t0002a0001c0003t0014a0001c0019t0002 | a0001c0003t0002g0004a0001c0003t0002g0046a0001c0003t0002g0047others(11): Show | 14 | 294 | 0.0476 | 0 | c.195 others(6): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112837553 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0002 | a0002c0025 | a0002c0025t0002 | a0002c0025t0002g0065 | 1 | 294 | 0.0034 | 0 | c.195 others(4): Show |
p.Arg others(6): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 16/16 | 2018/10704 | 1959/8532 | 653/2843 | chr5 | TogoVar | ||
APEX2_chrX_54995363_55014057 | 55001531 | AT | A | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG02145.hp1 HG02257.hp2 others(20): Show |
a0001 | a0001c0001a0001c0005a0001c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0002g0002a0001c0001t0003g0002a0001c0001t0003g0003others(8): Show | 23 | 303 | 0.0759 | -1 | c.158 others(6): Show |
APEX2 | ENSG00000169188.5 | transcript | ENST00000374987.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APEX2_chrX_54995363_55014057 | 55002430 | C | T | missense_variant others(1): Show |
MODERATE | NA18967.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0001 | 1 | 303 | 0.0033 | 0 | c.421 others(3): Show |
p.Arg others(6): Show |
APEX2 | ENSG00000169188.5 | transcript | ENST00000374987.4 | protein_coding | 3/6 | 481/3239 | 421/1557 | 141/518 | chrX | TogoVar | ||
APH1A_chr1_150260404_150274016 | 150266193 | G | C | missense_variant others(1): Show |
MODERATE | HG03098.hp1 HG03225.hp1 NA21309.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 3 | 440 | 0.0068 | 0 | c.735 others(3): Show |
p.Cys others(6): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 7/7 | 941/1730 | 735/798 | 245/265 | chr1 | TogoVar | ||
APH1A_chr1_150260404_150274016 | 150267797 | G | C | splice_region_variant others(1): Show |
LOW | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 440 | 0.0023 | 0 | c.285 others(5): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
API5_chr11_43306996_43349529 | 43335855 | C | T | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 384 | 0.0026 | 0 | c.135 others(6): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/13 | chr11 | TogoVar | ||||||
APIP_chr11_34877295_34921379 | 34888286 | A | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(178): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0002a0002c0006others(3): Show | a0001c0007t0002a0002c0002t0001a0002c0006t0001others(4): Show | a0001c0007t0002g0221a0002c0002t0001g0003a0002c0002t0001g0008others(117): Show | 181 | 355 | 0.5099 | 0 | c.461 others(5): Show |
APIP | ENSG00000149089.13 | transcript | ENST00000395787.4 | protein_coding | 5/6 | chr11 | TogoVar | ||||||
APIP_chr11_34877295_34921379 | 34895110 | C | T | missense_variant others(1): Show |
MODERATE | HG00280.hp2 HG00733.hp2 HG01099.hp1 others(14): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0007 | a0003c0003t0003g0006a0003c0003t0003g0024a0003c0003t0003g0025others(8): Show | 17 | 355 | 0.0479 | 0 | c.58G others(2): Show |
p.Asp others(5): Show |
APIP | ENSG00000149089.13 | transcript | ENST00000395787.4 | protein_coding | 2/7 | 153/1246 | 58/729 | 20/242 | chr11 | TogoVar | ||
APLP2_chr11_130064894_130149805 | 130140481 | A | T | missense_variant others(1): Show |
MODERATE | HG02040.hp2 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0210 | 1 | 274 | 0.0037 | 0 | c.192 others(4): Show |
p.Met others(6): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 14/17 | 2005/3697 | 1921/2256 | 641/751 | chr11 | TogoVar | ||
APMAP_chr20_24957925_24997751 | 24964028 | G | A | splice_region_variant others(1): Show |
LOW | HG02572.hp2 HG02965.hp1 HG03098.hp1 |
a0001a0010 | a0001c0009a0010c0013 | a0001c0009t0006a0010c0013t0013 | a0001c0009t0006g0022a0010c0013t0013g0100 | 3 | 290 | 0.0103 | 0 | c.104 others(6): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
APMAP_chr20_24957925_24997751 | 24970192 | C | T | splice_region_variant others(1): Show |
LOW | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0066 | 1 | 290 | 0.0035 | 0 | c.713 others(5): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 6/8 | chr20 | TogoVar | ||||||
APMAP_chr20_24957925_24997751 | 24970199 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02258.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005 | a0001c0003t0004g0027a0001c0003t0004g0066a0001c0003t0004g0067others(8): Show | 12 | 290 | 0.0414 | 0 | c.711 others(3): Show |
p.Gly others(6): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 6/9 | 774/2202 | 711/1251 | 237/416 | chr20 | TogoVar | ||
APOA1_chr11_116830751_116842622 | 116836994 | T | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 448 | 0.0022 | 0 | c.200 others(5): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161222526 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00408.hp1 HG00673.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011 | 69 | 430 | 0.1605 | 0 | c.186 others(5): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | C | CCA | splice_region_variant others(1): Show |
LOW | HG01256.hp1 HG01258.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 9 | 430 | 0.0209 | 2 | c.53- others(11): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCA | C | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02486.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 10 | 430 | 0.0233 | -2 | c.53- others(11): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACA | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG02135.hp1 HG02602.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 11 | 430 | 0.0256 | -4 | c.53- others(13): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACACA | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(152): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0002c0003t0001g0014 | 155 | 430 | 0.3605 | -6 | c.53- others(16): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACACAC others(1): Show |
C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02970.hp2 HG03453.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0011 | 10 | 430 | 0.0233 | -8 | c.53- others(18): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACACAC others(3): Show |
C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0010 | 76 | 430 | 0.1767 | -10 | c.53- others(20): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACACAC others(5): Show |
C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 89 | 430 | 0.2070 | -12 | c.53- others(22): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116821879 | G | T | missense_variant others(1): Show |
MODERATE | NA18984.hp2 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0020 | 1 | 462 | 0.0022 | 0 | c.179 others(3): Show |
p.Ala others(5): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 3/3 | 292/1471 | 179/1191 | 60/396 | chr11 | TogoVar | ||
APOBEC3A_chr22_38952609_38968184 | 38959692 | C | A | splice_region_variant others(1): Show |
LOW | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0034 | 1 | 360 | 0.0028 | 0 | c.174 others(5): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962391 | TCCCTCCC others(5786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA19012.hp1 | a0000 | a0000c0004 | a0000c0004t0003 | a0000c0004t0003g0047 | 1 | 360 | 0.0028 | -5793 | c.586 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38982475 | C | T | splice_region_variant others(1): Show |
LOW | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 354 | 0.0028 | 0 | c.17+ others(4): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38982476 | G | A | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 354 | 0.0028 | 0 | c.17+ others(4): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38986416 | A | C | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0135 | 1 | 354 | 0.0028 | 0 | c.569 others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 4/7 | chr22 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38989617 | G | C | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | 354 | 0.0057 | 0 | c.723 others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 5/7 | chr22 | TogoVar | ||||||
APOBEC3D_chr22_39016127_39038277 | 39025559 | T | A | missense_variant others(1): Show |
MODERATE | NA19012.hp2 | a0009 | a0009c0007 | a0009c0007t0003 | a0009c0007t0003g0032 | 1 | 458 | 0.0022 | 0 | c.493 others(3): Show |
p.Phe others(6): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 4/7 | 886/2515 | 493/1161 | 165/386 | chr22 | TogoVar |