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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1AR_chr4_112226787_112278110 | 112277723 | AAATGAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(131): Show | 236 | 398 | 0.5930 | -6 | c.*93 others(17): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 4614 | chr4 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACAC | G | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 HG02976.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0161a0001c0001t0001g0171others(6): Show | 9 | 378 | 0.0238 | -6 | c.37+ others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(70): Show |
a0001a0002a0007 | a0001c0001a0002c0007a0007c0013 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(66): Show | 73 | 378 | 0.1931 | -6 | c.-39 others(17): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736115 | AAAATAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0030 | a0001c0001t0005g0050a0001c0001t0005g0051a0001c0001t0005g0052others(10): Show | 13 | 320 | 0.0406 | -6 | c.226 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736117 | AATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0005g0058a0001c0001t0005g0112a0001c0001t0005g0114others(35): Show | 39 | 320 | 0.1219 | -6 | c.226 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71787318 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0008a0002c0002t0001others(6): Show | a0001c0001t0002g0316a0001c0003t0008g0183a0001c0003t0008g0184others(34): Show | 37 | 320 | 0.1156 | -6 | c.201 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71807185 | GGAGGCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(12): Show | a0001c0001t0002g0044a0001c0001t0002g0194a0001c0001t0002g0198others(104): Show | 107 | 320 | 0.3344 | -6 | c.-4+ others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0002t0002a0001c0002t0007others(15): Show | a0001c0001t0111g0190a0001c0002t0002g0026a0001c0002t0002g0028others(46): Show | 49 | 308 | 0.1591 | -6 | c.*48 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16240268 | GTGTGTA | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0125a0001c0001t0165 | a0001c0001t0124g0011a0001c0001t0125g0013a0001c0001t0165g0032 | 3 | 308 | 0.0097 | -6 | c.*58 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16243246 | TTTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(131): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(234): Show | 244 | 308 | 0.7922 | -6 | c.*88 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 8846 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250286 | GTGTGTA | G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0036a0001c0001t0124others(2): Show | a0001c0001t0020g0278a0001c0001t0020g0279a0001c0001t0036g0277others(3): Show | 6 | 308 | 0.0195 | -6 | c.*15 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4381 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01975.hp2 HG02451.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0083a0001c0002t0001g0084a0001c0002t0001g0085others(21): Show | 25 | 394 | 0.0635 | -6 | c.889 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATATAT | A | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 NA18940.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0084a0001c0001t0002g0103a0001c0001t0002g0121others(1): Show | 4 | 318 | 0.0126 | -6 | c.427 others(23): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG02109.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0202a0001c0001t0001g0271a0001c0001t0001g0304others(10): Show | 13 | 340 | 0.0382 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAG | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0038 | a0001c0001t0001g0032a0001c0001t0001g0193a0001c0001t0001g0201others(7): Show | 10 | 340 | 0.0294 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAGAG | T | intron_variant | MODIFIER | HG01993.hp1 NA18971.hp1 NA18977.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0191a0001c0001t0001g0203a0001c0001t0001g0239others(5): Show | 8 | 340 | 0.0235 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAGAG | T | intron_variant | MODIFIER | HG01074.hp2 HG02074.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0136a0001c0001t0001g0305a0001c0001t0003g0020others(4): Show | 7 | 340 | 0.0206 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780353 | AGAGAGT | A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0141a0001c0001t0004g0155a0001c0001t0004g0218others(3): Show | 6 | 340 | 0.0177 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780357 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0037a0001c0001t0058others(1): Show | a0001c0001t0012g0099a0001c0001t0012g0106a0001c0001t0012g0182others(3): Show | 6 | 340 | 0.0177 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACACAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0085a0001c0001t0002g0087others(5): Show | 8 | 340 | 0.0235 | -6 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0043a0001c0001t0001g0055a0001c0001t0001g0057others(33): Show | 36 | 340 | 0.1059 | -6 | c.3+5 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | GTTTTTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0002t0005a0001c0010t0005 | a0001c0002t0002g0143a0001c0002t0005g0141a0001c0002t0005g0142others(2): Show | 5 | 268 | 0.0187 | -6 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 969219 | CCTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0061a0001c0002t0002g0226a0001c0002t0002g0233others(17): Show | 20 | 268 | 0.0746 | -6 | c.137 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01884.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0171a0001c0001t0002g0173a0001c0001t0002g0174others(20): Show | 23 | 372 | 0.0618 | -6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35612880 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0016 | a0001c0001t0004g0318a0001c0001t0004g0320a0001c0001t0004g0321others(32): Show | 35 | 372 | 0.0941 | -6 | c.525 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35617991 | CTATGTA | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0165a0001c0004t0002g0166a0001c0004t0002g0167others(3): Show | 6 | 372 | 0.0161 | -6 | c.526 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0053a0001c0001t0002g0063others(69): Show | 73 | 372 | 0.1962 | -6 | c.153 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35718312 | CTGTGTG | C | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG02129.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0126a0001c0001t0002g0179a0001c0001t0002g0180others(21): Show | 24 | 372 | 0.0645 | -6 | c.278 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(17): Show | 38 | 422 | 0.0901 | -6 | c.-41 others(15): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78055016 | GACACAC | G | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp1 HG01978.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0116a0001c0001t0001g0127others(6): Show | 9 | 226 | 0.0398 | -6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78068358 | AAGAAGG | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
a0001a0003a0006 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | 226 | 0.0752 | -6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78085037 | CACATAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0007others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0007t0002others(1): Show | a0001c0001t0001g0076a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | 226 | 0.0531 | -6 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78166117 | TCACACA | T | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01934.hp1 others(16): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0029a0001c0001t0002g0014a0001c0001t0002g0021others(16): Show | 19 | 226 | 0.0841 | -6 | c.116 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78168888 | CTTGACA | C | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | 226 | 0.0177 | -6 | c.116 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78276880 | AAAGAAG | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | 226 | 0.1327 | -6 | c.129 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82664387 | CTCCTCA | C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 NA18944.hp2 NA18954.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019a0002c0003t0001g0084a0002c0003t0001g0085others(3): Show | 6 | 368 | 0.0163 | -6 | c.223 others(15): Show |
p.Asp others(13): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 19/27 | 2409/3754 | 2235/3306 | 745/1101 | chr15 | TogoVar | ||
AP3B2_chr15_82654281_82714875 | 82665376 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG01975.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0005t0001a0001c0011t0005 | a0001c0001t0001g0158a0001c0001t0001g0169a0001c0001t0001g0196others(9): Show | 12 | 368 | 0.0326 | -6 | c.197 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82699641 | GCTGGCT | G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0163a0001c0001t0001g0164others(4): Show | 7 | 368 | 0.0190 | -6 | c.113 others(23): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAAA | C | intron_variant | MODIFIER | HG02004.hp2 HG02055.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0007t0022 | a0001c0001t0003g0234a0001c0001t0003g0239a0001c0001t0003g0242others(5): Show | 8 | 334 | 0.0240 | -6 | c.804 others(21): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74128120 | AAAAAGG | A | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(1): Show | a0001c0001t0003g0008a0001c0001t0003g0011a0001c0001t0003g0012others(33): Show | 47 | 334 | 0.1407 | -6 | c.803 others(21): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(77): Show | 94 | 378 | 0.2487 | -6 | c.69+ others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115851983 | GAGATTA | G | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0196a0001c0001t0001g0209a0001c0001t0001g0210others(12): Show | 15 | 378 | 0.0397 | -6 | c.69+ others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S2_chr15_89825599_89898994 | 89844279 | CTCTCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0033a0001c0001t0001g0034others(6): Show | 9 | 312 | 0.0289 | -6 | c.346 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854894 | TGGGGGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(156): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0048others(156): Show | 159 | 312 | 0.5096 | -6 | c.345 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89866979 | CCCCTCT | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01106.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0151a0001c0001t0002g0152a0001c0001t0003g0141others(19): Show | 22 | 312 | 0.0705 | -6 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113907204 | GTTTTTT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(143): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(23): Show | 146 | 434 | 0.3364 | -6 | c.-24 others(17): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50912657 | ATTTTTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0208a0001c0001t0001g0209others(2): Show | 6 | 392 | 0.0153 | -6 | c.222 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50964955 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0344a0001c0001t0001g0345others(1): Show | 4 | 392 | 0.0102 | -6 | c.185 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(150): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(149): Show | 153 | 346 | 0.4422 | -6 | c.-72 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049428 | AATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0100others(29): Show | 32 | 346 | 0.0925 | -6 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |