view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANP32A_chr15_68773535_68825895 | 68825474 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01928.hp1 HG01952.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0220 others(11): Show |
19 | 38 | 0.5000 | -7 | c.-47 others(18): Show |
ANP32A | ENSG00000140350.15 | transcript | ENST00000465139.6 | protein_coding | 4580 | chr15 | TogoVar | |||||||
ANTXR1_chr2_69008179_69254327 | 69203076 | AAACAATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 others(68): Show |
71 | 204 | 0.3480 | -7 | c.143 others(26): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79931446 | TTCTTCTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 |
a0004 | a0004c0005 | a0004c0005t0026 | a0004c0005t0026g0010 a0004c0005t0026g0022 |
2 | 238 | 0.0084 | -7 | c.142 others(28): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 80015916 | GAAAGGAA | G | intron_variant | MODIFIER | HG01257.hp1 HG02004.hp1 HG02572.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0008a0001c0003t0027a0001c0003t0030others(2): Show | a0001c0001t0008g0020 a0001c0003t0027g0007 a0001c0003t0030g0251 others(2): Show |
5 | 265 | 0.0189 | -7 | c.945 others(24): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168155773 | CATATATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(99): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(97): Show |
102 | 275 | 0.3709 | -7 | c.196 others(24): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168156037 | TTATATTA | T | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 a0002c0002t0001g0203 a0002c0002t0001g0204 |
3 | 275 | 0.0109 | -7 | c.196 others(24): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168183009 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(48): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0011others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(45): Show |
51 | 237 | 0.2152 | -7 | c.783 others(24): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168188561 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004 | a0001c0001t0001a0001c0009t0001a0003c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0055 others(51): Show |
55 | 224 | 0.2455 | -7 | c.*11 others(18): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 826 | chr4 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043831 | AATATATT | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02486.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 |
8 | 222 | 0.0360 | -7 | c.-37 others(18): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3513 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043875 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 32 | 285 | 0.1123 | -7 | c.-38 others(18): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3557 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043949 | AATATATT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
63 | 292 | 0.2158 | -7 | c.-39 others(18): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3631 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043993 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00735.hp2 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 28 | 293 | 0.0956 | -7 | c.-39 others(18): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3675 | chr5 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69757264 | ATATTTTT | A | intron_variant | MODIFIER | HG00673.hp1 NA18939.hp1 NA18939.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0120 a0001c0001t0003g0177 a0001c0001t0003g0205 others(6): Show |
9 | 304 | 0.0296 | -7 | c.-47 others(26): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69805046 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0006 | a0001c0001t0006g0020 a0001c0001t0006g0107 a0001c0001t0006g0112 others(6): Show |
9 | 91 | 0.0989 | -7 | c.192 others(22): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121694103 | GGGGGGGA | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0114 a0001c0001t0003g0004 a0001c0001t0003g0018 others(33): Show |
62 | 336 | 0.1845 | -7 | c.9+2 others(20): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151114613 | TAAAAAAA | T | intron_variant | MODIFIER | HG01175.hp2 HG03831.hp2 HG04204.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0175 others(3): Show |
6 | 32 | 0.1875 | -7 | c.157 others(26): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 20/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151126710 | CTTTTTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0091 others(72): Show |
79 | 406 | 0.1946 | -7 | c.978 others(22): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 13/25 | chr5 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73373994 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0007 | a0001c0001t0001g0162 a0001c0001t0003g0023 a0001c0001t0003g0024 others(11): Show |
14 | 64 | 0.2188 | -7 | c.*20 others(18): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1106 | chr10 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73418131 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02559.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0129 a0001c0001t0001g0159 others(4): Show |
8 | 111 | 0.0721 | -7 | c.-41 others(18): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 4074 | chr10 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36515708 | CCCACACA | C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03041.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0065 others(5): Show |
8 | 303 | 0.0264 | -7 | c.160 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36563147 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02895.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0003g0150 others(7): Show |
10 | 40 | 0.2500 | -7 | c.102 others(28): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36684933 | AAAAAAAG | A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(39): Show |
42 | 281 | 0.1495 | -7 | c.223 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94794800 | CCTACAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01109.hp1 others(64): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 others(64): Show |
67 | 180 | 0.3722 | -7 | c.111 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94875347 | GAAAAAAA | G | intron_variant | MODIFIER | HG03654.hp2 HG04204.hp1 NA18969.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0005c0005t0001g0113 others(4): Show |
7 | 28 | 0.2500 | -7 | c.136 others(28): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200634164 | ATTTTTTT | A | intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 HG03209.hp2 others(4): Show |
a0001a0003a0011 | a0001c0005a0001c0008a0001c0029others(3): Show | a0001c0005t0001a0001c0005t0002a0001c0008t0001others(4): Show | a0001c0005t0001g0053 a0001c0005t0002g0061 a0001c0008t0001g0051 others(4): Show |
7 | 109 | 0.0642 | -7 | c.222 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736118 | ATATATAT | A | intron_variant | MODIFIER | HG01168.hp1 HG02257.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0007a0001c0001t0016others(1): Show | a0001c0001t0005g0113 a0001c0001t0007g0078 a0001c0001t0016g0041 others(2): Show |
5 | 240 | 0.0208 | -7 | c.226 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71743602 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(118): Show |
121 | 283 | 0.4276 | -7 | c.199 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 19/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16196935 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0004a0001c0002t0010others(40): Show | a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0033 others(94): Show |
97 | 229 | 0.4236 | -7 | c.-10 others(18): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 975 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0021a0001c0002t0049others(6): Show | a0001c0002t0010g0092 a0001c0002t0010g0139 a0001c0002t0010g0140 others(10): Show |
13 | 50 | 0.2600 | -7 | c.*48 others(18): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4838 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244792 | TGCAGTCC | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0102a0001c0001t0131a0001c0001t0143 | a0001c0001t0102g0214 a0001c0001t0131g0007 a0001c0001t0143g0007 |
3 | 306 | 0.0098 | -7 | c.*10 others(20): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10366 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M2_chr19_10567671_10592312 | 10570735 | AAGAAAAG | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02071.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0047 others(4): Show |
9 | 379 | 0.0237 | -7 | c.*23 others(18): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1935 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10572461 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0269 a0001c0001t0001g0275 others(4): Show |
7 | 391 | 0.0179 | -7 | c.*59 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 209 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10586453 | TAAAAAAA | T | intron_variant | MODIFIER | HG02523.hp2 NA18946.hp1 NA18968.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0017 a0001c0002t0004g0036 a0001c0002t0004g0038 others(7): Show |
11 | 275 | 0.0400 | -7 | c.42+ others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834472 | ATATATAT | A | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0130 |
7 | 316 | 0.0222 | -7 | c.427 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223762342 | GGCTCACT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(120): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(23): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(120): Show |
123 | 338 | 0.3639 | -7 | c.429 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49810678 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0108 others(17): Show |
22 | 169 | 0.1302 | -7 | c.*39 others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 3565 | chr19 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35642308 | AGTACCAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0004g0158 a0001c0001t0004g0316 a0001c0001t0004g0318 others(178): Show |
182 | 370 | 0.4919 | -7 | c.153 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35651871 | AAACATGT | A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01123.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 a0001c0001t0006g0069 a0001c0001t0006g0071 others(10): Show |
13 | 370 | 0.0351 | -7 | c.179 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 13/21 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35720573 | ATTTTTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0008a0001c0006t0004 | a0001c0001t0004g0335 a0001c0001t0004g0337 a0001c0001t0004g0342 others(7): Show |
10 | 203 | 0.0493 | -7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0004 | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0003t0001g0006 others(1): Show |
15 | 90 | 0.1667 | -7 | c.-41 others(16): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46853899 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0291 a0001c0001t0001g0294 others(7): Show |
13 | 317 | 0.0410 | -7 | c.-31 others(18): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3054 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78168226 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(30): Show |
33 | 208 | 0.1587 | -7 | c.116 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78282848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0144 others(54): Show |
57 | 180 | 0.3167 | -7 | c.128 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82683047 | GTTTTTTT | G | intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG01981.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 others(11): Show |
14 | 80 | 0.1750 | -7 | c.361 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82699269 | GGCAGGCA | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(76): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(73): Show |
79 | 366 | 0.2158 | -7 | c.114 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0082 a0001c0001t0003g0008 a0001c0001t0003g0012 others(38): Show |
53 | 129 | 0.4109 | -7 | c.804 others(22): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74128124 | AGGAAAAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 a0001c0001t0003g0224 a0001c0001t0003g0256 others(1): Show |
5 | 332 | 0.0151 | -7 | c.803 others(22): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(1): Show |
10 | 126 | 0.0794 | -7 | c.-24 others(18): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAAAA | C | intron_variant | MODIFIER | HG02074.hp2 HG02451.hp2 HG02970.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(2): Show | a0001c0001t0001g0206 a0001c0001t0001g0270 a0001c0001t0010g0271 others(7): Show |
10 | 154 | 0.0649 | -7 | c.-72 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0337 a0001c0001t0001g0340 others(14): Show |
17 | 90 | 0.1889 | -7 | c.-71 others(26): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |