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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RORA_chr15_60483284_61234302 | 61040113 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0049a0001c0002t0055 | a0001c0001t0010g0081 a0001c0001t0010g0088 a0001c0001t0049g0003 others(1): Show |
4 | 118 | 0.0339 | -8 | c.166 others(29): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61078329 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0047a0001c0002t0003others(1): Show | a0001c0001t0009g0010 a0001c0001t0047g0023 a0001c0002t0003g0013 others(1): Show |
4 | 118 | 0.0339 | -8 | c.166 others(29): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61119411 | ACACTATA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01169.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0010g0088 a0001c0001t0011g0021 a0001c0001t0012g0025 others(9): Show |
12 | 118 | 0.1017 | -8 | c.166 others(29): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61137019 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp2 HG01358.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0053 others(13): Show |
16 | 118 | 0.1356 | -8 | c.166 others(27): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61175612 | ATGTGGGG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0083 others(44): Show |
47 | 118 | 0.3983 | -8 | c.166 others(27): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61218175 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0031others(2): Show | a0001c0001t0007g0115 a0001c0001t0017g0014 a0001c0001t0031g0116 others(2): Show |
5 | 118 | 0.0424 | -8 | c.166 others(27): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61229303 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0020a0001c0004t0019 | a0001c0001t0001g0053 a0001c0001t0020g0040 a0001c0004t0019g0006 others(1): Show |
4 | 118 | 0.0339 | -8 | c.-93 others(15): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2 | chr15 | TogoVar | |||||||
RORB_chr9_74492335_74698177 | 74541279 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0134 a0001c0001t0001g0170 others(30): Show |
34 | 226 | 0.1504 | -8 | c.7+4 others(23): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74549547 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG02886.hp1 NA18747.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0069 a0001c0001t0008g0091 a0001c0001t0009g0070 others(6): Show |
10 | 226 | 0.0443 | -8 | c.7+5 others(23): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74586600 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0006 a0001c0001t0020g0137 a0001c0001t0020g0138 |
3 | 226 | 0.0133 | -8 | c.8-4 others(23): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74654333 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00609.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0058 a0001c0001t0001g0087 others(48): Show |
52 | 226 | 0.2301 | -8 | c.638 others(25): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74661928 | AGCCACCG others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0046 | a0001c0001t0012g0158 a0001c0001t0046g0093 |
2 | 226 | 0.0089 | -8 | c.760 others(23): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORC_chr1_151801071_151836802 | 151830621 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG03130.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0057 a0001c0001t0003g0058 a0001c0001t0009g0118 |
3 | 430 | 0.0070 | -8 | c.40+ others(23): Show |
RORC | ENSG00000143365.20 | transcript | ENST00000318247.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
RORC_chr1_151801071_151836802 | 151836776 | CTCTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0009t0016others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0193 a0001c0002t0002g0190 others(2): Show |
12 | 430 | 0.0279 | -8 | c.-50 others(19): Show |
RORC | ENSG00000143365.20 | transcript | ENST00000318247.7 | protein_coding | 4975 | chr1 | TogoVar | |||||||
RORC_chr1_151801071_151836802 | 151836778 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(94): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(80): Show |
97 | 430 | 0.2256 | -8 | c.-50 others(19): Show |
RORC | ENSG00000143365.20 | transcript | ENST00000318247.7 | protein_coding | 4977 | chr1 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117326091 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0016a0004c0008others(3): Show | a0001c0002t0001a0001c0002t0003a0002c0016t0001others(7): Show | a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0003g0039 others(10): Show |
14 | 322 | 0.0435 | -8 | c.553 others(25): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 34/43 | chr6 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117360273 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(31): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0069 a0001c0001t0002g0061 a0001c0001t0003g0067 others(31): Show |
34 | 322 | 0.1056 | -8 | c.343 others(23): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 23/43 | chr6 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117412605 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(41): Show | a0001c0001t0002g0048 a0001c0001t0003g0108 a0001c0002t0001g0050 others(73): Show |
78 | 322 | 0.2422 | -8 | c.255 others(25): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 4/43 | chr6 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117430681 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01175.hp2 others(12): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0051a0003c0003others(4): Show | a0001c0001t0022a0001c0051t0006a0003c0003t0032others(5): Show | a0001c0001t0022g0009 a0001c0051t0006g0010 a0003c0003t0032g0159 others(11): Show |
15 | 322 | 0.0466 | -8 | c.-50 others(19): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 4740 | chr6 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10631399 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02572.hp2 others(2): Show |
a0034a0069a0070others(1): Show | a0034c0016a0069c0186a0070c0182others(1): Show | a0034c0016t0003a0069c0186t0009a0070c0182t0009others(1): Show | a0034c0016t0003g0004 a0069c0186t0009g0365 a0070c0182t0009g0363 others(1): Show |
5 | 414 | 0.0121 | -8 | c.-19 others(25): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
RP2_chrX_46832043_46887358 | 46836336 | AAAAGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(43): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 others(40): Show |
46 | 274 | 0.1679 | -8 | c.-76 others(17): Show |
RP2 | ENSG00000102218.6 | transcript | ENST00000218340.4 | protein_coding | 706 | chrX | TogoVar | |||||||
RP9_chr7_33089797_33114404 | 33113710 | GCTTCCTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0028 |
13 | 444 | 0.0293 | -8 | c.-43 others(19): Show |
RP9 | ENSG00000164610.10 | transcript | ENST00000297157.8 | protein_coding | 4307 | chr7 | TogoVar | |||||||
RPA1_chr17_1825005_1905082 | 1833786 | AGAGGTTC others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0006a0001c0005t0026others(2): Show | a0001c0003t0001g0248 a0001c0005t0006g0247 a0001c0005t0006g0333 others(3): Show |
6 | 402 | 0.0149 | -8 | c.33+ others(23): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPA1_chr17_1825005_1905082 | 1895659 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01081.hp2 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0042a0001c0002t0005others(7): Show | a0001c0001t0006g0001 a0001c0001t0006g0022 a0001c0001t0006g0027 others(33): Show |
37 | 402 | 0.0920 | -8 | c.174 others(25): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPA2_chr1_27886524_27919575 | 27916596 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0032 others(5): Show |
11 | 364 | 0.0302 | -8 | c.-21 others(19): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2022 | chr1 | TogoVar | |||||||
RPA2_chr1_27886524_27919575 | 27916996 | CTTCCTCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 364 | 0.0082 | -8 | c.-25 others(19): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2422 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7666184 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01167.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0039 a0001c0001t0004g0040 others(6): Show |
10 | 308 | 0.0325 | -8 | c.-75 others(29): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7667591 | AATGTTTA others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0106 a0001c0001t0002g0219 a0001c0001t0002g0220 others(1): Show |
4 | 308 | 0.0130 | -8 | c.-75 others(29): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7693295 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0300 others(4): Show |
7 | 308 | 0.0227 | -8 | c.-10 others(29): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
RPA4_chrX_96878908_96890467 | 96882976 | AAAAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 319 | 0.0031 | -8 | c.-13 others(19): Show |
RPA4 | ENSG00000204086.4 | transcript | ENST00000373040.4 | protein_coding | 931 | chrX | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41516829 | AATAGATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(111): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0019a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0001others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(101): Show |
114 | 414 | 0.2754 | -8 | c.*70 others(17): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 346 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92378184 | TATTCATT others(1): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0044 | a0001c0001t0004a0001c0044t0057 | a0001c0001t0004g0186 a0001c0044t0057g0159 |
2 | 192 | 0.0104 | -8 | c.168 others(27): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP3_chr12_47656249_47711030 | 47706893 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp2 others(58): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(45): Show |
61 | 414 | 0.1473 | -8 | c.-95 others(17): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 864 | chr12 | TogoVar | |||||||
RPE65_chr1_68423822_68454954 | 68436444 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(170): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0002a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0133 a0001c0001t0003g0005 others(57): Show |
173 | 456 | 0.3794 | -8 | c.112 others(27): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 10/13 | chr1 | TogoVar | |||||||
RPF2_chr6_110977038_111033263 | 111008898 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0050 others(87): Show |
91 | 360 | 0.2528 | -8 | c.493 others(23): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPGRIP1L_chr16_53593153_53708859 | 53603674 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG01891.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0005a0002c0002a0003c0003others(6): Show | a0001c0005t0001a0001c0005t0005a0002c0002t0001others(7): Show | a0001c0005t0001g0036 a0001c0005t0001g0052 a0001c0005t0005g0032 others(31): Show |
34 | 364 | 0.0934 | -8 | c.383 others(27): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 26/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53622799 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG03041.hp1 others(4): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0015 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0007g0089 a0001c0001t0007g0090 others(4): Show |
7 | 364 | 0.0192 | -8 | c.329 others(25): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53636941 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03041.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0005t0001a0002c0002t0001 | a0001c0001t0003g0102 a0001c0005t0001g0036 a0001c0005t0001g0052 others(1): Show |
4 | 364 | 0.0110 | -8 | c.322 others(25): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 21/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53699817 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(21): Show |
a0005a0006 | a0005c0006a0005c0009a0005c0023others(2): Show | a0005c0006t0001a0005c0006t0012a0005c0009t0001others(3): Show | a0005c0006t0001g0031 a0005c0006t0001g0337 a0005c0006t0001g0338 others(21): Show |
24 | 364 | 0.0659 | -8 | c.85+ others(21): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 2/26 | chr16 | TogoVar | |||||||
RPGRIP1_chr14_21275083_21356301 | 21294830 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(42): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0039a0003c0003others(14): Show | a0001c0001t0004a0002c0039t0001a0003c0003t0001others(14): Show | a0001c0001t0004g0177 a0002c0039t0001g0018 a0003c0003t0001g0039 others(42): Show |
45 | 332 | 0.1355 | -8 | c.218 others(21): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21295444 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0018others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(151): Show |
154 | 332 | 0.4639 | -8 | c.218 others(23): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21295478 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0018others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(133): Show |
136 | 332 | 0.4096 | -8 | c.218 others(23): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21304389 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(54): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0020others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0020t0001others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0099 others(54): Show |
57 | 332 | 0.1717 | -8 | c.800 others(23): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21306112 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02818.hp2 others(5): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0009others(2): Show | a0001c0001t0001a0002c0002t0001a0008c0009t0001others(2): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0002c0002t0001g0091 others(5): Show |
8 | 332 | 0.0241 | -8 | c.801 others(25): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21343866 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp2 others(8): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(6): Show | a0001c0001t0001g0324 a0001c0001t0002g0004 a0001c0004t0002g0244 others(8): Show |
11 | 332 | 0.0331 | -8 | c.353 others(25): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 232829 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 NA18951.hp1 others(2): Show |
a0001a0005a0008 | a0001c0001a0005c0010a0008c0013 | a0001c0001t0001a0001c0001t0020a0001c0001t0033others(2): Show | a0001c0001t0001g0027 a0001c0001t0020g0127 a0001c0001t0033g0063 others(2): Show |
5 | 133 | 0.0376 | -8 | c.614 others(27): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 275241 | ACAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01358.hp2 HG01361.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0047 a0001c0001t0001g0124 a0001c0001t0002g0031 others(16): Show |
19 | 133 | 0.1429 | -8 | c.438 others(25): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112902332 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0091a0001c0001t0103others(9): Show | a0001c0001t0002g0251 a0001c0001t0091g0047 a0001c0001t0103g0205 others(9): Show |
12 | 266 | 0.0451 | -8 | c.*55 others(19): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 3452 | chr12 | TogoVar | |||||||
RPL10L_chr14_46646010_46656781 | 46648949 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 27 | 386 | 0.0700 | -8 | c.*21 others(19): Show |
RPL10L | ENSG00000165496.5 | transcript | ENST00000298283.5 | protein_coding | 2060 | chr14 | TogoVar | |||||||
RPL10_chrX_154393377_154407332 | 154407218 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0008 | 1 | 276 | 0.0036 | -8 | c.*63 others(19): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 4887 | chrX | TogoVar |