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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RB1_chr13_48298751_48486890 | 48303948 | CGCCGCCG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG02818.hp2 HG03225.hp2 HG03540.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0254a0002c0002t0001g0255a0002c0002t0001g0256others(1): Show | 4 | 306 | 0.0131 | -9 | c.45_ others(14): Show |
p.Ala others(11): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 1/27 | 207/4768 | 45/2787 | 15/928 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
RBBP4_chr1_32646208_32691211 | 32647041 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(10): Show | a0001c0001t0001g0231a0001c0001t0009g0207a0001c0001t0012g0053others(25): Show | 30 | 312 | 0.0962 | -9 | c.-42 others(20): Show |
RBBP4 | ENSG00000162521.19 | transcript | ENST00000373493.10 | protein_coding | 4166 | chr1 | TogoVar | ||||||
RBBP4_chr1_32646208_32691211 | 32678567 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00642.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0016others(59): Show | 74 | 312 | 0.2372 | -9 | c.121 others(28): Show |
RBBP4 | ENSG00000162521.19 | transcript | ENST00000373493.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RBBP5_chr1_205081142_205126978 | 205093480 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0241a0001c0001t0002g0308a0001c0001t0002g0309others(13): Show | 18 | 390 | 0.0462 | -9 | c.158 others(28): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16864539 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108a0001c0001t0002g0264 | 2 | 316 | 0.0063 | -9 | c.162 others(26): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 2/11 | chrX | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16866523 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 316 | 0.0032 | -9 | c.161 others(26): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 2/11 | chrX | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 22929499 | TGTGTGTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02723.hp1 HG03225.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(10): Show | 13 | 330 | 0.0394 | -9 | c.-41 others(20): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 3828 | chr18 | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 22980965 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01168.hp2 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008 | a0001c0002t0002g0007a0001c0002t0002g0009a0001c0002t0002g0166others(24): Show | 29 | 330 | 0.0879 | -9 | c.429 others(26): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBBP8_chr18_22928328_23031486 | 23024040 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01515.hp2 HG01517.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0002t0002g0007others(9): Show | 14 | 330 | 0.0424 | -9 | c.259 others(28): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBCK1_chr20_403299_437139 | 405776 | AGCCACTG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0252a0001c0001t0003g0253a0001c0001t0008g0260 | 3 | 452 | 0.0066 | -9 | c.-29 others(20): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 2522 | chr20 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6067374 | ACAAACCA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0028a0001c0001t0003g0049a0001c0001t0003g0050others(7): Show | 10 | 68 | 0.1471 | -9 | c.-12 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6242656 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0028a0001c0001t0002g0004a0001c0001t0012g0054others(1): Show | 4 | 68 | 0.0588 | -9 | c.-12 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6293894 | GCGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0042 | a0001c0001t0001g0030a0001c0001t0022g0009a0001c0001t0042g0022 | 3 | 68 | 0.0441 | -9 | c.-12 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6487701 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02148.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0003 | a0001c0001t0001g0059a0003c0005t0003g0043 | 2 | 68 | 0.0294 | -9 | c.-63 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6584340 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02735.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0026 | a0001c0001t0004g0057a0001c0001t0006g0038a0001c0001t0026g0051 | 3 | 68 | 0.0441 | -9 | c.-63 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6611990 | TCCCGAGT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01099.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0017a0001c0001t0032others(1): Show | a0001c0001t0001g0025a0001c0001t0017g0014a0001c0001t0032g0068others(1): Show | 4 | 68 | 0.0588 | -9 | c.-63 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6636836 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0025 | a0001c0001t0003g0050a0001c0001t0011g0035a0001c0001t0025g0048 | 3 | 68 | 0.0441 | -9 | c.-63 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6653293 | GTGATATG others(2): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG03490.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0003 | a0001c0001t0001g0063a0001c0001t0002g0012a0001c0001t0002g0015others(1): Show | 4 | 68 | 0.0588 | -9 | c.-63 others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6767914 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG02148.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0035 | a0001c0001t0004g0057a0001c0001t0035g0065 | 2 | 68 | 0.0294 | -9 | c.-16 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6767947 | TAAGAAGA others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0001t0030a0001c0002t0028 | a0001c0001t0027g0042a0001c0001t0030g0024a0001c0002t0028g0031 | 3 | 68 | 0.0441 | -9 | c.-16 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6779906 | TATTTATA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01099.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0035 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0017g0014others(1): Show | 4 | 68 | 0.0588 | -9 | c.-16 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6819726 | AAAAAATA others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02148.hp1 HG02148.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(2): Show | a0001c0001t0001g0059a0001c0001t0002g0012a0001c0001t0035g0065others(2): Show | 5 | 68 | 0.0735 | -9 | c.-16 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6944397 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0001t0023others(2): Show | a0001c0001t0007g0039a0001c0001t0011g0035a0001c0001t0023g0047others(2): Show | 5 | 68 | 0.0735 | -9 | c.-15 others(30): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6977023 | GTATCATA others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0007a0001c0001t0020g0002 | 2 | 68 | 0.0294 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6977141 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01175.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0002g0016a0001c0001t0004g0033a0001c0001t0004g0040others(15): Show | 18 | 68 | 0.2647 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6986160 | TCTACCAG others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0024 | a0001c0001t0019g0055a0001c0001t0024g0008 | 2 | 68 | 0.0294 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7009243 | ACTTCCTC others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0003g0050others(7): Show | 10 | 68 | 0.1471 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7028600 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0028a0001c0001t0003g0050a0001c0001t0018g0052 | 3 | 68 | 0.0441 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7028601 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02451.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0033 | a0001c0001t0002g0007a0001c0001t0002g0013a0001c0001t0017g0014others(1): Show | 4 | 68 | 0.0588 | -9 | c.-15 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7062892 | CATTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02965.hp2 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0025a0001c0001t0002g0044a0001c0001t0003g0041others(2): Show | 5 | 68 | 0.0735 | -9 | c.27+ others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7096931 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 NA19043.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0008g0034a0001c0001t0009g0036a0001c0001t0011g0035others(2): Show | 5 | 68 | 0.0735 | -9 | c.27+ others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7187688 | CACAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02148.hp1 NA20300.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025a0001c0001t0029others(1): Show | a0001c0001t0003g0049a0001c0001t0025g0048a0001c0001t0029g0001others(1): Show | 4 | 68 | 0.0588 | -9 | c.27+ others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7194760 | TCTACAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00609.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0004g0033others(10): Show | 13 | 68 | 0.1912 | -9 | c.27+ others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7209142 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG02738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0053a0001c0001t0001g0067a0001c0001t0003g0006others(9): Show | 12 | 68 | 0.1765 | -9 | c.27+ others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7217000 | CTCCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0037a0001c0001t0040 | a0001c0001t0033g0027a0001c0001t0037g0029a0001c0001t0040g0064 | 3 | 68 | 0.0441 | -9 | c.27+ others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7392849 | GGTTTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0002g0004others(12): Show | 15 | 68 | 0.2206 | -9 | c.28- others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7596127 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01175.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0020a0001c0001t0001g0028a0001c0001t0001g0030others(26): Show | 29 | 68 | 0.4265 | -9 | c.561 others(24): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7612320 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00609.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(25): Show | 28 | 68 | 0.4118 | -9 | c.676 others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7699278 | ACCTCCTG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0028others(41): Show | 44 | 68 | 0.6471 | -9 | c.996 others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7392849 | GGTTTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01099.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0050others(39): Show | 42 | 234 | 0.1795 | -9 | c.87+ others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7596127 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp2 others(83): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(41): Show | a0001c0001t0001g0026a0001c0001t0001g0050a0001c0001t0001g0094others(83): Show | 86 | 234 | 0.3675 | -9 | c.621 others(24): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7612320 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(42): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0050others(119): Show | 122 | 234 | 0.5214 | -9 | c.736 others(26): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7699278 | ACCTCCTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(140): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(40): Show | a0001c0001t0001g0016a0001c0001t0001g0042a0001c0001t0001g0065others(140): Show | 143 | 234 | 0.6111 | -9 | c.111 others(28): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 12/13 | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79229230 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0122others(3): Show | 6 | 154 | 0.0390 | -9 | c.-34 others(26): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79277261 | GCTCCAAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(69): Show | 72 | 154 | 0.4675 | -9 | c.-74 others(28): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 3/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79390358 | ACCATCAC others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0060a0001c0001t0005g0121a0001c0001t0005g0144 | 3 | 154 | 0.0195 | -9 | c.-17 others(30): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79555679 | ATGATGGT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0124a0001c0001t0004g0092 | 2 | 154 | 0.0130 | -9 | c.-32 others(30): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBKS_chr2_27776379_27895387 | 27794305 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01109.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(32): Show | 35 | 268 | 0.1306 | -9 | c.796 others(28): Show |
RBKS | ENSG00000171174.15 | transcript | ENST00000302188.8 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 36999465 | CCCTCTCC others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018a0001c0001t0021 | a0001c0001t0011g0065a0001c0001t0011g0066a0001c0001t0018g0064others(1): Show | 4 | 354 | 0.0113 | -9 | c.303 others(26): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBL2_chr16_53429471_53496648 | 53484758 | GCTCTGGG others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0093a0001c0002t0002g0094others(1): Show | 5 | 276 | 0.0181 | -9 | c.324 others(28): Show |
RBL2 | ENSG00000103479.17 | transcript | ENST00000262133.11 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |