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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO3_chr11_26327130_26668289 | 26544251 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02602.hp2 |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0006 | a0001c0005t0005g0034a0001c0005t0006g0109 | 2 | 190 | 0.0105 | 32 | c.115 others(51): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26544273 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 190 | 0.0053 | 32 | c.115 others(51): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26544273 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0096 | 1 | 190 | 0.0053 | 32 | c.115 others(51): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22267508 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp1 NA18612.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115a0001c0001t0003g0119a0001c0001t0003g0120others(7): Show | 10 | 364 | 0.0275 | 32 | c.189 others(51): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO6_chr12_45211095_45437349 | 45317107 | T | TTATGTGT others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 234 | 0.0043 | 32 | c.151 others(51): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO6_chr12_45211095_45437349 | 45317113 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | 234 | 0.0128 | 32 | c.151 others(51): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO7_chr2_241183677_241230976 | 241213174 | A | AGGCCCGC others(25): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0261a0006c0006t0001g0262 | 2 | 396 | 0.0051 | 32 | c.172 others(49): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANO7_chr2_241183677_241230976 | 241218179 | G | GAGCGGGG others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157 | 1 | 396 | 0.0025 | 32 | c.217 others(47): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANOS1_chrX_8523874_8737137 | 8682354 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0017 | 1 | 231 | 0.0043 | 32 | c.255 others(51): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 2/13 | chrX | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221600 | G | GGGAAGGA others(25): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18978.hp1 NA18986.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0016a0002c0001t0001g0061a0002c0001t0001g0077others(1): Show | 5 | 370 | 0.0135 | 32 | c.737 others(47): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAAGGA others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(70): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(7): Show | a0001c0002t0001g0009a0001c0002t0001g0011a0001c0002t0001g0070others(60): Show | 73 | 370 | 0.1973 | 32 | c.737 others(47): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0012 | a0001c0003t0003g0292a0001c0003t0003g0295a0001c0003t0003g0296others(2): Show | 5 | 370 | 0.0135 | 32 | c.737 others(47): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0021 | a0001c0003t0005g0013a0001c0003t0005g0040a0001c0003t0005g0041others(3): Show | 7 | 370 | 0.0189 | 32 | c.737 others(47): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69096257 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 206 | 0.0049 | 32 | c.703 others(49): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR1_chr2_69008179_69254327 | 69219384 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 206 | 0.0049 | 32 | c.143 others(53): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR2_chr4_79896146_80078229 | 79990876 | G | GTAACTGA others(25): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0003 | a0001c0003t0063 | a0001c0003t0063g0173 | 1 | 268 | 0.0037 | 32 | c.104 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 12/16 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168096926 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0043 | 1 | 284 | 0.0035 | 32 | c.18+ others(47): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168156288 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG00741.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(25): Show | 29 | 284 | 0.1021 | 32 | c.196 others(49): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168156288 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02258.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0198a0001c0001t0001g0199others(3): Show | 7 | 284 | 0.0247 | 32 | c.196 others(49): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA2R_chr5_43034371_43045319 | 43043722 | T | TTTATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | 32 | c.-36 others(43): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3404 | chr5 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043771 | A | AAATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01952.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 296 | 0.0068 | 32 | c.-37 others(43): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3453 | chr5 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 NA18951.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0085a0001c0001t0001g0088others(1): Show | 4 | 334 | 0.0120 | 32 | c.-10 others(43): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01070.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0090a0001c0001t0001g0110others(13): Show | 16 | 334 | 0.0479 | 32 | c.-10 others(43): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151140577 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 408 | 0.0025 | 32 | c.19- others(45): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517214 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01943.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0037a0002c0002t0001g0210a0002c0004t0001g0226 | 3 | 306 | 0.0098 | 32 | c.160 others(51): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517262 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 306 | 0.0033 | 32 | c.160 others(51): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94728239 | G | GCGCGCGC others(25): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 182 | 0.0055 | 32 | c.-13 others(51): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0170 | 1 | 182 | 0.0055 | 32 | c.166 others(51): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01981.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162a0001c0002t0002g0163 | 2 | 268 | 0.0075 | 32 | c.67+ others(47): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP3B1_chr5_77997326_78299698 | 78193768 | A | ATCTATAT others(25): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 226 | 0.0044 | 32 | c.787 others(51): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02523.hp2 HG04228.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0002g0014a0001c0001t0002g0019 | 3 | 226 | 0.0133 | 32 | c.787 others(51): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0318 | 1 | 392 | 0.0026 | 32 | c.185 others(51): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCCCACAC others(25): Show |
intron_variant | MODIFIER | HG03710.hp1 HG06807.hp1 NA18948.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0010a0002c0003t0020 | a0002c0003t0003g0027a0002c0003t0010g0033a0002c0003t0020g0008 | 3 | 392 | 0.0077 | 32 | c.185 others(51): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31096670 | C | CATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0016 | a0001c0001t0010g0271a0001c0001t0010g0272a0001c0001t0010g0274others(4): Show | 7 | 346 | 0.0202 | 32 | c.*36 others(43): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 221 | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31096676 | C | CATATATA others(25): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0085 | 1 | 346 | 0.0029 | 32 | c.*36 others(43): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 227 | chr14 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0135 | 1 | 366 | 0.0027 | 32 | c.956 others(47): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0319a0001c0001t0007g0250 | 2 | 366 | 0.0055 | 32 | c.272 others(49): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69636828 | A | AGAGAGAG others(25): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 210 | 0.0048 | 32 | c.-70 others(51): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 210 | 0.0048 | 32 | c.-70 others(51): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 210 | 0.0048 | 32 | c.-70 others(51): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969128 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0086 | 1 | 204 | 0.0049 | 32 | c.-94 others(51): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 358 | 0.0028 | 32 | c.813 others(49): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1_chr11_6390125_6424094 | 6411409 | G | GCAGCATC others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 416 | 0.0024 | 32 | c.-14 others(45): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
APBB1_chr11_6390125_6424094 | 6421867 | C | CTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 416 | 0.0024 | 32 | c.-28 others(43): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 2774 | chr11 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40964753 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18951.hp1 NA19056.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017a0001c0002t0048 | a0001c0002t0002g0086a0001c0002t0017g0120a0001c0002t0048g0067 | 3 | 192 | 0.0156 | 32 | c.836 others(51): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APELA_chr4_164872178_164902527 | 164878196 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0212others(14): Show | 20 | 434 | 0.0461 | 32 | c.77- others(45): Show |
APELA | ENSG00000248329.6 | transcript | ENST00000507152.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68518802 | T | TGTCATTA others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01943.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0114a0003c0003t0004g0115a0003c0003t0004g0124 | 3 | 176 | 0.0171 | 32 | c.622 others(49): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68518805 | C | CATTATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 HG03195.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0002a0006c0007t0006a0006c0007t0017 | a0002c0002t0002g0052a0006c0007t0006g0002a0006c0007t0006g0032others(1): Show | 5 | 176 | 0.0284 | 32 | c.622 others(49): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68519094 | T | TATAATAA others(25): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0006 | a0006c0013 | a0006c0013t0016 | a0006c0013t0016g0166 | 1 | 176 | 0.0057 | 32 | c.622 others(49): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APOBEC1_chr12_7644400_7670908 | 7660375 | G | GGAAGGAA others(25): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0364 | 1 | 432 | 0.0023 | 32 | c.16+ others(47): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar |