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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USH2A_chr1_215617891_216428448 | 215846084 | GAA | G | 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.884 others(17): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 44/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215856832 | GGT | G | intron_variant | MODIFIER | HG01192.hp1 HG02735.hp1 HG03139.hp1 |
a0002a0013a0044 | a0002c0072a0013c0065a0044c0016 | a0002c0072t0001a0013c0065t0004a0044c0016t0001 | a0002c0072t0001g0050 a0013c0065t0004g0074 a0044c0016t0001g0009 |
3 | 74 | 0.0405 | -2 | c.884 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 44/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215875901 | AAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(10): Show |
a0001a0008a0011others(9): Show | a0001c0001a0008c0037a0011c0059others(9): Show | a0001c0001t0002a0008c0037t0001a0011c0059t0001others(9): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0008c0037t0001g0033 others(10): Show |
13 | 74 | 0.1757 | -2 | c.868 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 43/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215882430 | TTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(16): Show |
a0004a0005a0007others(16): Show | a0004c0069a0005c0029a0007c0036others(16): Show | a0004c0069t0001a0005c0029t0007a0007c0036t0001others(16): Show | a0004c0069t0001g0057 a0005c0029t0007g0043 a0007c0036t0001g0027 others(16): Show |
19 | 74 | 0.2568 | -2 | c.822 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 41/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215884654 | CTT | C | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03225.hp2 others(4): Show |
a0028a0040a0049others(4): Show | a0028c0005a0040c0009a0049c0054others(4): Show | a0028c0005t0002a0040c0009t0008a0049c0054t0003others(4): Show | a0028c0005t0002g0022 a0040c0009t0008g0001 a0049c0054t0003g0071 others(4): Show |
7 | 74 | 0.0946 | -2 | c.822 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 41/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215893427 | TGA | T | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 |
a0029a0037 | a0029c0043a0037c0011 | a0029c0043t0002a0037c0011t0001 | a0029c0043t0002g0047 a0037c0011t0001g0046 |
2 | 74 | 0.0270 | -2 | c.759 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 40/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215912512 | CGT | C | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0043a0046 | a0043c0039a0046c0007 | a0043c0039t0002a0046c0007t0001 | a0043c0039t0002g0031 a0046c0007t0001g0010 |
2 | 74 | 0.0270 | -2 | c.730 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215914068 | CTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(6): Show |
a0001a0011a0023others(5): Show | a0001c0001a0011c0059a0023c0020others(5): Show | a0001c0001t0002a0011c0059t0001a0023c0020t0006others(5): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0011c0059t0001g0069 others(6): Show |
9 | 74 | 0.1216 | -2 | c.730 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215917780 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(32): Show |
a0001a0002a0004others(31): Show | a0001c0001a0002c0071a0004c0069others(31): Show | a0001c0001t0002a0002c0071t0001a0004c0069t0001others(31): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(32): Show |
35 | 74 | 0.4730 | -2 | c.730 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215947042 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(20): Show |
a0001a0005a0007others(19): Show | a0001c0001a0005c0029a0007c0036others(19): Show | a0001c0001t0002a0005c0029t0007a0007c0036t0001others(19): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 others(20): Show |
23 | 74 | 0.3108 | -2 | c.712 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 37/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215948425 | GAT | G | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp2 |
a0053a0063 | a0053c0028a0063c0052 | a0053c0028t0003a0063c0052t0003 | a0053c0028t0003g0041 a0063c0052t0003g0072 |
2 | 74 | 0.0270 | -2 | c.712 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 37/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215948443 | TAC | T | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02572.hp1 others(6): Show |
a0009a0021a0025others(6): Show | a0009c0017a0021c0030a0025c0026others(6): Show | a0009c0017t0002a0021c0030t0001a0025c0026t0001others(6): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0025c0026t0001g0038 others(6): Show |
9 | 74 | 0.1216 | -2 | c.712 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 37/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215962653 | ATG | A | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 |
a0045a0049 | a0045c0002a0049c0054 | a0045c0002t0002a0049c0054t0003 | a0045c0002t0002g0019 a0049c0054t0003g0071 |
2 | 74 | 0.0270 | -2 | c.712 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 37/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215962658 | TAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(38): Show |
a0001a0002a0004others(36): Show | a0001c0001a0002c0071a0002c0072others(37): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(37): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(38): Show |
41 | 74 | 0.5541 | -2 | c.712 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 37/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215965923 | TCA | T | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01081.hp2 others(14): Show |
a0005a0007a0008others(14): Show | a0005c0029a0007c0036a0008c0037others(14): Show | a0005c0029t0007a0007c0036t0001a0008c0037t0001others(14): Show | a0005c0029t0007g0043 a0007c0036t0001g0027 a0008c0037t0001g0033 others(14): Show |
17 | 74 | 0.2297 | -2 | c.695 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 36/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215970891 | ACT | A | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02647.hp1 others(13): Show |
a0025a0027a0029others(13): Show | a0025c0026a0027c0055a0029c0043others(13): Show | a0025c0026t0001a0027c0055t0006a0029c0043t0002others(13): Show | a0025c0026t0001g0038 a0027c0055t0006g0061 a0029c0043t0002g0047 others(13): Show |
16 | 74 | 0.2162 | -2 | c.680 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 35/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215973656 | CTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02647.hp2 others(4): Show |
a0009a0021a0030others(4): Show | a0009c0017a0021c0030a0030c0003others(4): Show | a0009c0017t0002a0021c0030t0001a0030c0003t0001others(4): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0030c0003t0001g0018 others(4): Show |
7 | 74 | 0.0946 | -2 | c.680 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 35/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215973940 | TCA | T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03195.hp1 |
a0026a0030a0046 | a0026c0018a0030c0003a0046c0007 | a0026c0018t0003a0030c0003t0001a0046c0007t0001 | a0026c0018t0003g0012 a0030c0003t0001g0018 a0046c0007t0001g0010 |
3 | 74 | 0.0405 | -2 | c.680 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 35/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215993509 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001a0004a0010others(21): Show | a0001c0001a0004c0069a0010c0063others(21): Show | a0001c0001t0002a0004c0069t0001a0010c0063t0001others(21): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0004c0069t0001g0057 others(22): Show |
25 | 74 | 0.3378 | -2 | c.665 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 34/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215996560 | GTT | G | intron_variant | MODIFIER | HG02004.hp1 HG02922.hp2 HG03486.hp1 others(1): Show |
a0015a0039a0054others(1): Show | a0015c0064a0039c0019a0054c0061others(1): Show | a0015c0064t0001a0039c0019t0009a0054c0061t0002others(1): Show | a0015c0064t0001g0051 a0039c0019t0009g0011 a0054c0061t0002g0066 others(1): Show |
4 | 74 | 0.0541 | -2 | c.665 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 34/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216002513 | CTA | C | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 |
a0041a0065 | a0041c0049a0065c0006 | a0041c0049t0001a0065c0006t0014 | a0041c0049t0001g0063 a0065c0006t0014g0007 |
2 | 74 | 0.0270 | -2 | c.632 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216011971 | ATT | A | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp1 HG02572.hp1 others(10): Show |
a0002a0014a0019others(10): Show | a0002c0072a0014c0023a0019c0058others(10): Show | a0002c0072t0001a0014c0023t0004a0019c0058t0001others(10): Show | a0002c0072t0001g0050 a0014c0023t0004g0013 a0019c0058t0001g0068 others(10): Show |
13 | 74 | 0.1757 | -2 | c.632 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216014085 | AAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(45): Show |
a0002a0004a0005others(45): Show | a0002c0071a0004c0069a0005c0029others(45): Show | a0002c0071t0001a0004c0069t0001a0005c0029t0007others(45): Show | a0002c0071t0001g0058 a0004c0069t0001g0057 a0005c0029t0007g0043 others(45): Show |
48 | 74 | 0.6487 | -2 | c.632 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216030326 | AAT | A | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02615.hp2 others(2): Show |
a0009a0021a0028others(2): Show | a0009c0017a0021c0030a0028c0005others(2): Show | a0009c0017t0002a0021c0030t0001a0028c0005t0002others(2): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0028c0005t0002g0022 others(2): Show |
5 | 74 | 0.0676 | -2 | c.632 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216040038 | GTC | G | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 NA20300.hp2 |
a0024a0027a0069 | a0024c0032a0027c0055a0069c0066 | a0024c0032t0005a0027c0055t0006a0069c0066t0002 | a0024c0032t0005g0032 a0027c0055t0006g0061 a0069c0066t0002g0049 |
3 | 74 | 0.0405 | -2 | c.632 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216040048 | TAC | T | intron_variant | MODIFIER | HG02698.hp1 HG03471.hp2 NA18522.hp1 others(1): Show |
a0031a0053a0060others(1): Show | a0031c0040a0053c0028a0060c0014others(1): Show | a0031c0040t0001a0053c0028t0003a0060c0014t0003others(1): Show | a0031c0040t0001g0034 a0053c0028t0003g0041 a0060c0014t0003g0006 others(1): Show |
4 | 74 | 0.0541 | -2 | c.632 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216046006 | GGT | G | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 HG02922.hp2 others(3): Show |
a0005a0017a0039others(3): Show | a0005c0029a0017c0008a0039c0019others(3): Show | a0005c0029t0007a0017c0008t0002a0039c0019t0009others(3): Show | a0005c0029t0007g0043 a0017c0008t0002g0021 a0039c0019t0009g0011 others(3): Show |
6 | 74 | 0.0811 | -2 | c.632 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216056803 | TGA | T | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp1 HG03453.hp1 others(2): Show |
a0037a0038a0050others(2): Show | a0037c0011a0038c0022a0050c0013others(2): Show | a0037c0011t0001a0038c0022t0001a0050c0013t0001others(2): Show | a0037c0011t0001g0046 a0038c0022t0001g0002 a0050c0013t0001g0023 others(2): Show |
5 | 74 | 0.0676 | -2 | c.605 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216074324 | TTC | T | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02572.hp1 others(9): Show |
a0009a0021a0025others(9): Show | a0009c0017a0021c0030a0025c0026others(9): Show | a0009c0017t0002a0021c0030t0001a0025c0026t0001others(9): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0025c0026t0001g0038 others(9): Show |
12 | 74 | 0.1622 | -2 | c.557 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 27/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216085719 | AGT | A | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp2 HG03471.hp2 others(2): Show |
a0020a0037a0053others(2): Show | a0020c0004a0037c0011a0053c0028others(2): Show | a0020c0004t0012a0037c0011t0001a0053c0028t0003others(2): Show | a0020c0004t0012g0020 a0037c0011t0001g0046 a0053c0028t0003g0041 others(2): Show |
5 | 74 | 0.0676 | -2 | c.498 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 24/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216106317 | CTA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(50): Show |
a0001a0002a0004others(48): Show | a0001c0001a0002c0071a0002c0072others(49): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(49): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(50): Show |
53 | 74 | 0.7162 | -2 | c.462 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216108052 | TTC | T | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 |
a0007a0008 | a0007c0036a0008c0037 | a0007c0036t0001a0008c0037t0001 | a0007c0036t0001g0027 a0008c0037t0001g0033 |
2 | 74 | 0.0270 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216117814 | GTA | G | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02922.hp2 others(2): Show |
a0009a0028a0039others(2): Show | a0009c0017a0028c0005a0039c0019others(2): Show | a0009c0017t0002a0028c0005t0002a0039c0019t0009others(2): Show | a0009c0017t0002g0024 a0028c0005t0002g0022 a0039c0019t0009g0011 others(2): Show |
5 | 74 | 0.0676 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216120219 | CAA | C | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG03130.hp1 others(3): Show |
a0029a0036a0042others(3): Show | a0029c0043a0036c0053a0042c0056others(3): Show | a0029c0043t0002a0036c0053t0001a0042c0056t0005others(3): Show | a0029c0043t0002g0047 a0036c0053t0001g0062 a0042c0056t0005g0070 others(3): Show |
6 | 74 | 0.0811 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216135134 | ACT | A | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG02055.hp1 |
a0007a0008a0017 | a0007c0036a0008c0037a0017c0008 | a0007c0036t0001a0008c0037t0001a0017c0008t0002 | a0007c0036t0001g0027 a0008c0037t0001g0033 a0017c0008t0002g0021 |
3 | 74 | 0.0405 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216135207 | CTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 |
a0017a0026 | a0017c0008a0026c0018 | a0017c0008t0002a0026c0018t0003 | a0017c0008t0002g0021 a0026c0018t0003g0012 |
2 | 74 | 0.0270 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216138063 | ATT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 |
a0006a0007a0008 | a0006c0073a0007c0036a0008c0037 | a0006c0073t0001a0007c0036t0001a0008c0037t0001 | a0006c0073t0001g0054 a0007c0036t0001g0027 a0008c0037t0001g0033 |
3 | 74 | 0.0405 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216138918 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG02055.hp1 others(18): Show |
a0002a0004a0009others(18): Show | a0002c0072a0004c0069a0009c0017others(18): Show | a0002c0072t0001a0004c0069t0001a0009c0017t0002others(18): Show | a0002c0072t0001g0050 a0004c0069t0001g0057 a0009c0017t0002g0024 others(18): Show |
21 | 74 | 0.2838 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216138942 | GTA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 |
a0006a0007a0008 | a0006c0073a0007c0036a0008c0037 | a0006c0073t0001a0007c0036t0001a0008c0037t0001 | a0006c0073t0001g0054 a0007c0036t0001g0027 a0008c0037t0001g0033 |
3 | 74 | 0.0405 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216159537 | TAC | T | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp2 HG02559.hp2 others(3): Show |
a0002a0018a0024others(3): Show | a0002c0071a0018c0027a0024c0032others(3): Show | a0002c0071t0001a0018c0027t0002a0024c0032t0005others(3): Show | a0002c0071t0001g0058 a0018c0027t0002g0042 a0024c0032t0005g0032 others(3): Show |
6 | 74 | 0.0811 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216160743 | CAT | C | intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG03098.hp2 others(1): Show |
a0034a0036a0041others(1): Show | a0034c0045a0036c0053a0041c0049others(1): Show | a0034c0045t0006a0036c0053t0001a0041c0049t0001others(1): Show | a0034c0045t0006g0028 a0036c0053t0001g0062 a0041c0049t0001g0063 others(1): Show |
4 | 74 | 0.0541 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216161138 | CTG | C | intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG03098.hp2 others(1): Show |
a0034a0036a0041others(1): Show | a0034c0045a0036c0053a0041c0049others(1): Show | a0034c0045t0006a0036c0053t0001a0041c0049t0001others(1): Show | a0034c0045t0006g0028 a0036c0053t0001g0062 a0041c0049t0001g0063 others(1): Show |
4 | 74 | 0.0541 | -2 | c.462 others(23): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216207713 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(65): Show |
a0001a0002a0004others(63): Show | a0001c0001a0002c0071a0002c0072others(64): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(64): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(65): Show |
68 | 74 | 0.9189 | -2 | c.315 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 15/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216214223 | CCA | C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG03139.hp2 |
a0020a0030a0045 | a0020c0004a0030c0003a0045c0002 | a0020c0004t0012a0030c0003t0001a0045c0002t0002 | a0020c0004t0012g0020 a0030c0003t0001g0018 a0045c0002t0002g0019 |
3 | 74 | 0.0405 | -2 | c.315 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 15/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216218990 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(63): Show |
a0001a0002a0004others(61): Show | a0001c0001a0002c0071a0002c0072others(62): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(62): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(63): Show |
66 | 74 | 0.8919 | -2 | c.299 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 14/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216222980 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01081.hp1 others(25): Show |
a0001a0002a0004others(24): Show | a0001c0001a0002c0071a0002c0072others(25): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(25): Show | a0001c0001t0002g0035 a0002c0071t0001g0058 a0002c0072t0001g0050 others(25): Show |
28 | 74 | 0.3784 | -2 | c.299 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 14/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216230874 | TCA | T | intron_variant | MODIFIER | HG01192.hp1 NA18522.hp1 |
a0013a0060 | a0013c0065a0060c0014 | a0013c0065t0004a0060c0014t0003 | a0013c0065t0004g0074 a0060c0014t0003g0006 |
2 | 74 | 0.0270 | -2 | c.299 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 14/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216231233 | CAT | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02451.hp2 others(3): Show |
a0011a0019a0022others(3): Show | a0011c0059a0019c0058a0022c0057others(3): Show | a0011c0059t0001a0019c0058t0001a0022c0057t0001others(3): Show | a0011c0059t0001g0069 a0019c0058t0001g0068 a0022c0057t0001g0064 others(3): Show |
6 | 74 | 0.0811 | -2 | c.299 others(19): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 14/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216240013 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02257.hp2 others(8): Show |
a0011a0019a0020others(8): Show | a0011c0059a0019c0058a0020c0004others(8): Show | a0011c0059t0001a0019c0058t0001a0020c0004t0012others(8): Show | a0011c0059t0001g0069 a0019c0058t0001g0068 a0020c0004t0012g0020 others(8): Show |
11 | 74 | 0.1487 | -2 | c.280 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 13/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216245470 | TGA | T | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG02559.hp2 others(7): Show |
a0007a0009a0024others(7): Show | a0007c0036a0009c0017a0024c0032others(7): Show | a0007c0036t0001a0009c0017t0002a0024c0032t0005others(7): Show | a0007c0036t0001g0027 a0009c0017t0002g0024 a0024c0032t0005g0032 others(7): Show |
10 | 74 | 0.1351 | -2 | c.280 others(21): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 13/71 | chr1 | TogoVar |