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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USE1_chr19_17210357_17224829 | 17214139 | CTT | C | upstream_gene_variant | MODIFIER | HG01517.hp2 HG01975.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 |
6 | 422 | 0.0142 | -2 | c.-12 others(13): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 1217 | chr19 | TogoVar | |||||||
USE1_chr19_17210357_17224829 | 17218826 | CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG01358.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0057 others(1): Show |
7 | 422 | 0.0166 | -2 | c.423 others(17): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USE1_chr19_17210357_17224829 | 17221459 | CAA | C | downstream_gene_variant | MODIFIER | HG01517.hp1 HG02080.hp2 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0048 |
7 | 422 | 0.0166 | -2 | c.*16 others(13): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 1631 | chr19 | TogoVar | |||||||
USE1_chr19_17210357_17224829 | 17221649 | CAA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(123): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(24): Show |
126 | 422 | 0.2986 | -2 | c.*18 others(13): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 1821 | chr19 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161039272 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0012 | a0001c0001t0007g0012 a0001c0001t0007g0040 a0001c0001t0007g0048 others(5): Show |
21 | 396 | 0.0530 | -2 | c.*64 others(11): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 11/11 | 646 | chr1 | TogoVar | ||||||
USF2_chr19_35263962_35284821 | 35264939 | CAG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(27): Show |
77 | 426 | 0.1808 | -2 | c.-41 others(13): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 4022 | chr19 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35275432 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00673.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0026 others(18): Show |
64 | 426 | 0.1502 | -2 | c.728 others(19): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USF3_chr3_113643385_113701642 | 113644198 | GTC | G | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02056.hp2 HG02135.hp2 others(2): Show |
a0003a0004 | a0003c0004a0004c0011 | a0003c0004t0014a0004c0011t0005 | a0003c0004t0014g0289 a0004c0011t0005g0021 a0004c0011t0005g0255 others(1): Show |
5 | 342 | 0.0146 | -2 | c.*10 others(15): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 4186 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113645305 | GTT | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(104): Show |
a0002a0003a0005others(5): Show | a0002c0003a0003c0004a0003c0005others(10): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0013others(30): Show | a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0014 others(97): Show |
107 | 342 | 0.3129 | -2 | c.*96 others(13): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 3079 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113652084 | GGA | G | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00621.hp2 others(26): Show |
a0003a0007 | a0003c0004a0003c0022a0007c0025 | a0003c0004t0004a0003c0004t0014a0003c0004t0025others(3): Show | a0003c0004t0004g0001 a0003c0004t0004g0137 a0003c0004t0004g0138 others(19): Show |
29 | 342 | 0.0848 | -2 | c.*28 others(13): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 2858 | chr3 | TogoVar | ||||||
USF3_chr3_113643385_113701642 | 113652108 | AGT | A | 3_prime_UTR_variant | MODIFIER | NA18955.hp2 NA19070.hp1 NA19087.hp1 others(1): Show |
a0001a0007a0022 | a0001c0001a0001c0002a0007c0016others(1): Show | a0001c0001t0079a0001c0002t0068a0007c0016t0083others(1): Show | a0001c0001t0079g0273 a0001c0002t0068g0183 a0007c0016t0083g0274 others(1): Show |
4 | 342 | 0.0117 | -2 | c.*28 others(13): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 2834 | chr3 | TogoVar | ||||||
USF3_chr3_113643385_113701642 | 113653604 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0018a0003c0005t0039a0003c0005t0090 | a0003c0005t0018g0131 a0003c0005t0018g0132 a0003c0005t0018g0133 others(4): Show |
7 | 342 | 0.0205 | -2 | c.*13 others(13): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 1338 | chr3 | TogoVar | ||||||
USF3_chr3_113643385_113701642 | 113671765 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(78): Show |
a0002a0003a0005others(3): Show | a0002c0003a0003c0005a0005c0007others(5): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0013others(20): Show | a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0014 others(72): Show |
81 | 342 | 0.2368 | -2 | c.77- others(17): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113679009 | GTC | G | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 NA18522.hp1 |
a0009 | a0009c0015a0009c0023 | a0009c0015t0088a0009c0015t0089a0009c0023t0091 | a0009c0015t0088g0051 a0009c0015t0089g0050 a0009c0023t0091g0127 |
3 | 342 | 0.0088 | -2 | c.-13 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113679236 | TGC | T | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02148.hp2 others(4): Show |
a0005 | a0005c0008 | a0005c0008t0010a0005c0008t0053a0005c0008t0054 | a0005c0008t0010g0044 a0005c0008t0010g0045 a0005c0008t0010g0047 others(4): Show |
7 | 342 | 0.0205 | -2 | c.-13 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113681554 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(126): Show |
a0002a0003a0005others(7): Show | a0002c0003a0003c0004a0003c0005others(13): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0013others(37): Show | a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0014 others(113): Show |
129 | 342 | 0.3772 | -2 | c.-13 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113687229 | TCA | T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01074.hp2 others(30): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0004c0006others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0017 others(23): Show |
33 | 342 | 0.0965 | -2 | c.-13 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113687265 | ACC | A | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG02257.hp2 others(11): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0007others(1): Show | a0001c0002t0041a0002c0003t0001a0002c0003t0013others(5): Show | a0001c0002t0041g0029 a0002c0003t0001g0066 a0002c0003t0013g0065 others(10): Show |
14 | 342 | 0.0409 | -2 | c.-13 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17495834 | CAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(186): Show |
206 | 360 | 0.5722 | -2 | c.254 others(19): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 25/26 | chr11 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17539833 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(164): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0016 a0001c0001t0001g0203 a0001c0001t0001g0212 others(144): Show |
167 | 360 | 0.4639 | -2 | c.36+ others(17): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 1/26 | chr11 | TogoVar | |||||||
USH1G_chr17_74911083_74928255 | 74916891 | GCA | G | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0046 a0001c0001t0005g0058 a0002c0002t0005g0006 others(1): Show |
15 | 422 | 0.0356 | -2 | c.*11 others(13): Show |
USH1G | ENSG00000182040.9 | transcript | ENST00000614341.5 | protein_coding | 3/3 | 1180 | chr17 | TogoVar | ||||||
USH1G_chr17_74911083_74928255 | 74918808 | CAA | C | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0012 | a0001c0001t0003g0051 a0001c0001t0007g0013 a0001c0001t0007g0039 others(2): Show |
9 | 422 | 0.0213 | -2 | c.138 others(19): Show |
USH1G | ENSG00000182040.9 | transcript | ENST00000614341.5 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215622730 | TAA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(67): Show |
a0001a0002a0004others(65): Show | a0001c0001a0002c0071a0002c0072others(66): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(66): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(67): Show |
70 | 74 | 0.9460 | -2 | c.*30 others(13): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 160 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215622987 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03225.hp2 others(6): Show |
a0026a0040a0049others(6): Show | a0026c0018a0040c0009a0049c0054others(6): Show | a0026c0018t0003a0040c0009t0008a0049c0054t0003others(6): Show | a0026c0018t0003g0012 a0040c0009t0008g0001 a0049c0054t0003g0071 others(6): Show |
9 | 74 | 0.1216 | -2 | c.*27 others(13): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 72/72 | 2792 | chr1 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 215630472 | ATG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01071.hp2 others(13): Show |
a0001a0002a0006others(12): Show | a0001c0001a0002c0071a0002c0072others(13): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(13): Show | a0001c0001t0002g0036 a0002c0071t0001g0058 a0002c0072t0001g0050 others(13): Show |
16 | 74 | 0.2162 | -2 | c.152 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 70/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215637839 | ACT | A | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03225.hp2 others(5): Show |
a0026a0040a0049others(5): Show | a0026c0018a0040c0009a0049c0054others(5): Show | a0026c0018t0003a0040c0009t0008a0049c0054t0003others(5): Show | a0026c0018t0003g0012 a0040c0009t0008g0001 a0049c0054t0003g0071 others(5): Show |
8 | 74 | 0.1081 | -2 | c.150 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 69/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215666303 | TTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(60): Show |
a0001a0002a0004others(58): Show | a0001c0001a0002c0071a0002c0072others(59): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(59): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(60): Show |
63 | 74 | 0.8514 | -2 | c.141 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 64/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215678713 | GAC | G | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02896.hp1 others(2): Show |
a0012a0029a0036others(2): Show | a0012c0021a0029c0043a0036c0053others(2): Show | a0012c0021t0005a0029c0043t0002a0036c0053t0001others(2): Show | a0012c0021t0005g0003 a0029c0043t0002g0047 a0036c0053t0001g0062 others(2): Show |
5 | 74 | 0.0676 | -2 | c.122 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 62/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215685352 | TTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(12): Show |
a0001a0009a0019others(11): Show | a0001c0001a0009c0017a0019c0058others(11): Show | a0001c0001t0002a0009c0017t0002a0019c0058t0001others(11): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0009c0017t0002g0024 others(12): Show |
15 | 74 | 0.2027 | -2 | c.120 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215692465 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG02004.hp2 others(5): Show |
a0004a0006a0016others(5): Show | a0004c0069a0006c0073a0016c0041others(5): Show | a0004c0069t0001a0006c0073t0001a0016c0041t0004others(5): Show | a0004c0069t0001g0057 a0006c0073t0001g0054 a0016c0041t0004g0026 others(5): Show |
8 | 74 | 0.1081 | -2 | c.120 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215709645 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01081.hp2 others(5): Show |
a0004a0006a0008others(5): Show | a0004c0069a0006c0073a0008c0037others(5): Show | a0004c0069t0001a0006c0073t0001a0008c0037t0001others(5): Show | a0004c0069t0001g0057 a0006c0073t0001g0054 a0008c0037t0001g0033 others(5): Show |
8 | 74 | 0.1081 | -2 | c.120 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215719362 | CAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG02004.hp1 others(8): Show |
a0002a0007a0012others(8): Show | a0002c0072a0007c0036a0012c0021others(8): Show | a0002c0072t0001a0007c0036t0001a0012c0021t0005others(8): Show | a0002c0072t0001g0050 a0007c0036t0001g0027 a0012c0021t0005g0003 others(8): Show |
11 | 74 | 0.1487 | -2 | c.120 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215722067 | TAA | T | intron_variant | MODIFIER | HG01071.hp2 HG02004.hp1 HG02451.hp1 others(12): Show |
a0002a0007a0015others(12): Show | a0002c0072a0007c0036a0015c0064others(12): Show | a0002c0072t0001a0007c0036t0001a0015c0064t0001others(12): Show | a0002c0072t0001g0050 a0007c0036t0001g0027 a0015c0064t0001g0051 others(12): Show |
15 | 74 | 0.2027 | -2 | c.120 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215724220 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(52): Show |
a0001a0002a0004others(51): Show | a0001c0001a0002c0072a0004c0069others(51): Show | a0001c0001t0002a0002c0072t0001a0004c0069t0001others(51): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0072t0001g0050 others(52): Show |
55 | 74 | 0.7432 | -2 | c.120 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215743386 | ATG | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01192.hp1 others(5): Show |
a0005a0009a0013others(5): Show | a0005c0029a0009c0017a0013c0065others(5): Show | a0005c0029t0007a0009c0017t0002a0013c0065t0004others(5): Show | a0005c0029t0007g0043 a0009c0017t0002g0024 a0013c0065t0004g0074 others(5): Show |
8 | 74 | 0.1081 | -2 | c.113 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215746064 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 |
a0005a0013a0072 | a0005c0029a0013c0065a0072c0067 | a0005c0029t0007a0013c0065t0004a0072c0067t0001 | a0005c0029t0007g0043 a0013c0065t0004g0074 a0072c0067t0001g0055 |
3 | 74 | 0.0405 | -2 | c.113 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215758286 | CAA | C | intron_variant | MODIFIER | HG02735.hp1 HG03453.hp1 NA19043.hp1 others(1): Show |
a0002a0050a0062others(1): Show | a0002c0072a0050c0013a0062c0042others(1): Show | a0002c0072t0001a0050c0013t0001a0062c0042t0001others(1): Show | a0002c0072t0001g0050 a0050c0013t0001g0023 a0062c0042t0001g0030 others(1): Show |
4 | 74 | 0.0541 | -2 | c.113 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215765674 | CTA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(23): Show |
a0001a0009a0012others(22): Show | a0001c0001a0009c0017a0012c0021others(22): Show | a0001c0001t0002a0009c0017t0002a0012c0021t0005others(22): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0009c0017t0002g0024 others(23): Show |
26 | 74 | 0.3514 | -2 | c.110 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 56/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215768057 | CTG | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02572.hp1 others(8): Show |
a0001a0025a0027others(7): Show | a0001c0001a0025c0026a0027c0055others(7): Show | a0001c0001t0002a0025c0026t0001a0027c0055t0006others(7): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0025c0026t0001g0038 others(8): Show |
11 | 74 | 0.1487 | -2 | c.109 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215770942 | TAA | T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02257.hp1 others(9): Show |
a0005a0011a0019others(9): Show | a0005c0029a0011c0059a0019c0058others(9): Show | a0005c0029t0007a0011c0059t0001a0019c0058t0001others(9): Show | a0005c0029t0007g0043 a0011c0059t0001g0069 a0019c0058t0001g0068 others(9): Show |
12 | 74 | 0.1622 | -2 | c.109 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215773484 | GTC | G | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03540.hp2 |
a0026a0037a0057 | a0026c0018a0037c0011a0057c0038 | a0026c0018t0003a0037c0011t0001a0057c0038t0001 | a0026c0018t0003g0012 a0037c0011t0001g0046 a0057c0038t0001g0044 |
3 | 74 | 0.0405 | -2 | c.109 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215773490 | CTG | C | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02698.hp2 others(4): Show |
a0009a0018a0032others(4): Show | a0009c0017a0018c0027a0032c0070others(4): Show | a0009c0017t0002a0018c0027t0002a0032c0070t0001others(4): Show | a0009c0017t0002g0024 a0018c0027t0002g0042 a0032c0070t0001g0052 others(4): Show |
7 | 74 | 0.0946 | -2 | c.109 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215785932 | TAC | T | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01192.hp1 others(15): Show |
a0006a0012a0013others(15): Show | a0006c0073a0012c0021a0013c0065others(15): Show | a0006c0073t0001a0012c0021t0005a0013c0065t0004others(15): Show | a0006c0073t0001g0054 a0012c0021t0005g0003 a0013c0065t0004g0074 others(15): Show |
18 | 74 | 0.2432 | -2 | c.103 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 52/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215802025 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG02559.hp1 others(1): Show |
a0004a0008a0023others(1): Show | a0004c0069a0008c0037a0023c0020others(1): Show | a0004c0069t0001a0008c0037t0001a0023c0020t0006others(1): Show | a0004c0069t0001g0057 a0008c0037t0001g0033 a0023c0020t0006g0004 others(1): Show |
4 | 74 | 0.0541 | -2 | c.974 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 49/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215805284 | TAA | T | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03139.hp2 others(2): Show |
a0026a0041a0045others(2): Show | a0026c0018a0041c0049a0045c0002others(2): Show | a0026c0018t0003a0041c0049t0001a0045c0002t0002others(2): Show | a0026c0018t0003g0012 a0041c0049t0001g0063 a0045c0002t0002g0019 others(2): Show |
5 | 74 | 0.0676 | -2 | c.974 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 49/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215815406 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG02559.hp1 others(6): Show |
a0004a0008a0023others(6): Show | a0004c0069a0008c0037a0023c0020others(6): Show | a0004c0069t0001a0008c0037t0001a0023c0020t0006others(6): Show | a0004c0069t0001g0057 a0008c0037t0001g0033 a0023c0020t0006g0004 others(6): Show |
9 | 74 | 0.1216 | -2 | c.957 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 48/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215835164 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01106.hp1 others(18): Show |
a0002a0005a0007others(18): Show | a0002c0072a0005c0029a0007c0036others(18): Show | a0002c0072t0001a0005c0029t0007a0007c0036t0001others(18): Show | a0002c0072t0001g0050 a0005c0029t0007g0043 a0007c0036t0001g0027 others(18): Show |
21 | 74 | 0.2838 | -2 | c.937 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215836464 | TTA | T | intron_variant | MODIFIER | HG02717.hp1 NA19240.hp1 |
a0033a0064 | a0033c0050a0064c0048 | a0033c0050t0001a0064c0048t0007 | a0033c0050t0001g0060 a0064c0048t0007g0015 |
2 | 74 | 0.0270 | -2 | c.937 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215840163 | CAA | C | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02735.hp2 others(11): Show |
a0026a0029a0035others(11): Show | a0026c0018a0029c0043a0035c0033others(11): Show | a0026c0018t0003a0029c0043t0002a0035c0033t0001others(11): Show | a0026c0018t0003g0012 a0029c0043t0002g0047 a0035c0033t0001g0037 others(11): Show |
14 | 74 | 0.1892 | -2 | c.925 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 46/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215842682 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(50): Show |
a0002a0004a0005others(50): Show | a0002c0072a0004c0069a0005c0029others(50): Show | a0002c0072t0001a0004c0069t0001a0005c0029t0007others(50): Show | a0002c0072t0001g0050 a0004c0069t0001g0057 a0005c0029t0007g0043 others(50): Show |
53 | 74 | 0.7162 | -2 | c.925 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 46/71 | chr1 | TogoVar |