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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114043837 | G | GCCCCCCG others(20): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 67 | 0.0149 | 27 | c.278 others(44): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114043863 | G | GCCCCCCG others(20): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 67 | 0.0149 | 27 | c.278 others(44): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
RASAL2_chr1_178089104_178483850 | 178093792 | G | GCCGCCGC others(20): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 180 | 0.0056 | 27 | c.-70 others(36): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 311 | chr1 | TogoVar | ||||||
RASGEF1B_chr4_81421393_81476907 | 81466770 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03490.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0114a0001c0005t0001g0115 | 2 | 316 | 0.0063 | 27 | c.-7+ others(42): Show |
RASGEF1B | ENSG00000138670.19 | transcript | ENST00000264400.7 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
RASGRF2_chr5_80955363_81235162 | 80996471 | T | TTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG02015.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0106a0001c0001t0002g0207a0001c0001t0007g0243others(12): Show | 15 | 276 | 0.0544 | 27 | c.288 others(46): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RASGRF2_chr5_80955363_81235162 | 81019095 | C | CTGGCGCA others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0070a0001c0001t0001g0145a0001c0001t0001g0151others(47): Show | 50 | 276 | 0.1812 | 27 | c.289 others(46): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RASGRF2_chr5_80955363_81235162 | 81169997 | T | TCACCTGT others(20): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0058 | 1 | 276 | 0.0036 | 27 | c.268 others(48): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RASGRP2_chr11_64721911_64749142 | 64743748 | C | CGCGCCAA others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | 294 | 0.0068 | 27 | c.-72 others(42): Show |
RASGRP2 | ENSG00000068831.19 | transcript | ENST00000394432.8 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
RASGRP3_chr2_33471649_33569731 | 33529487 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0177a0001c0001t0019g0311 | 2 | 370 | 0.0054 | 27 | c.108 others(46): Show |
RASGRP3 | ENSG00000152689.18 | transcript | ENST00000403687.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RASGRP3_chr2_33471649_33569731 | 33547342 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0275a0001c0002t0006g0188 | 2 | 370 | 0.0054 | 27 | c.139 others(46): Show |
RASGRP3 | ENSG00000152689.18 | transcript | ENST00000403687.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RASGRP4_chr19_38404058_38431219 | 38428224 | A | AAATAATA others(20): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 NA18982.hp1 NA18982.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0002a0002c0004t0019 | a0001c0003t0002g0100a0001c0003t0002g0104a0002c0004t0019g0163 | 3 | 410 | 0.0073 | 27 | c.-21 others(38): Show |
RASGRP4 | ENSG00000171777.17 | transcript | ENST00000615439.5 | protein_coding | 2006 | chr19 | TogoVar | ||||||
RAX2_chr19_3764089_3777228 | 3776706 | G | GGGTGGAT others(20): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 436 | 0.0023 | 27 | c.-48 others(38): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 4479 | chr19 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 NA18747.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0047a0001c0001t0001g0072 | 3 | 306 | 0.0098 | 27 | c.-35 others(38): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0045a0001c0001t0001g0076a0001c0001t0001g0090others(2): Show | 5 | 306 | 0.0163 | 27 | c.-35 others(38): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 306 | 0.0033 | 27 | c.-35 others(38): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48459979 | C | CTTTTCTT others(20): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 306 | 0.0033 | 27 | c.210 others(44): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RBBP4_chr1_32646208_32691211 | 32687833 | A | AATTATTA others(20): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0165a0001c0001t0004g0001 | 2 | 312 | 0.0064 | 27 | c.*81 others(38): Show |
RBBP4 | ENSG00000162521.19 | transcript | ENST00000373493.10 | protein_coding | 1623 | chr1 | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16864542 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0197a0001c0001t0005g0192 | 2 | 316 | 0.0063 | 27 | c.162 others(44): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 2/11 | chrX | TogoVar | ||||||
RBCK1_chr20_403299_437139 | 407969 | C | CGCCCCCG others(20): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(51): Show | 56 | 452 | 0.1239 | 27 | c.-78 others(36): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 329 | chr20 | TogoVar | ||||||
RBCK1_chr20_403299_437139 | 420703 | A | ACCCCCAT others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 452 | 0.0022 | 27 | c.757 others(42): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6500884 | T | TTTGTTTG others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18994.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0020a0002c0003t0034 | a0001c0001t0020g0002a0002c0003t0034g0061 | 2 | 68 | 0.0294 | 27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6500888 | T | TTTGTTTG others(20): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0056 | 1 | 68 | 0.0147 | 27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6512283 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 68 | 0.0147 | 27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6767944 | T | TAAGAAGA others(20): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 68 | 0.0147 | 27 | c.-16 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6767947 | T | TAAGAAGA others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0049a0001c0001t0004g0040 | 2 | 68 | 0.0294 | 27 | c.-16 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6927414 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0039others(1): Show | a0001c0001t0008g0034a0001c0001t0018g0052a0001c0001t0039g0019others(1): Show | 4 | 68 | 0.0588 | 27 | c.-15 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6981042 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0064 | 1 | 68 | 0.0147 | 27 | c.-15 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7186994 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0047 | 1 | 68 | 0.0147 | 27 | c.27+ others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7672865 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 68 | 0.0147 | 27 | c.931 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7701199 | G | GAGCATTT others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027a0001c0001t0033others(1): Show | a0001c0001t0009g0036a0001c0001t0027g0042a0001c0001t0033g0027others(1): Show | 4 | 68 | 0.0588 | 27 | c.996 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7672865 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0217 | 1 | 234 | 0.0043 | 27 | c.993 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7701199 | G | GAGCATTT others(20): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0003a0001c0005a0001c0010 | a0001c0003t0057a0001c0005t0003a0001c0005t0038others(1): Show | a0001c0003t0057g0027a0001c0005t0003g0011a0001c0005t0003g0017others(11): Show | 14 | 234 | 0.0598 | 27 | c.111 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79150014 | A | ATGGGGGT others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0076 | 1 | 154 | 0.0065 | 27 | c.-33 others(46): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79197198 | T | TCACATGC others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0020others(64): Show | 67 | 154 | 0.4351 | 27 | c.-34 others(46): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79611130 | T | TCTCTCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG02976.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0087others(1): Show | 4 | 154 | 0.0260 | 27 | c.-62 others(36): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 80 | chr17 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37002336 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288a0001c0001t0002g0340 | 2 | 354 | 0.0057 | 27 | c.303 others(46): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37062827 | C | CGCCTGTA others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0008a0008c0010t0008 | a0003c0003t0008g0067a0003c0003t0008g0068a0003c0003t0008g0070others(1): Show | 4 | 354 | 0.0113 | 27 | c.897 others(42): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 7/21 | chr20 | TogoVar | ||||||
RBL2_chr16_53429471_53496648 | 53434650 | G | GAAGACGC others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0043 | 1 | 276 | 0.0036 | 27 | c.95_ others(33): Show |
p.Ser others(38): Show |
RBL2 | ENSG00000103479.17 | transcript | ENST00000262133.11 | protein_coding | 1/22 | 208/4854 | 122/3420 | 41/1139 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
RBL2_chr16_53429471_53496648 | 53457258 | C | CCTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0002c0004t0003 | a0001c0003t0003g0174a0001c0003t0003g0177a0001c0003t0003g0201others(1): Show | 4 | 276 | 0.0145 | 27 | c.118 others(46): Show |
RBL2 | ENSG00000103479.17 | transcript | ENST00000262133.11 | protein_coding | 8/21 | chr16 | TogoVar | ||||||
RBM19_chr12_113817057_113971325 | 113878998 | A | ACTAGACC others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0217 | 2 | 356 | 0.0056 | 27 | c.255 others(48): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110727419 | A | AAAAAATA others(20): Show |
intron_variant | MODIFIER | HG01358.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0019 | a0001c0001t0002a0002c0019t0009 | a0001c0001t0002g0123a0002c0019t0009g0124 | 2 | 268 | 0.0075 | 27 | c.192 others(46): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM20_chr10_110639336_110844468 | 110727419 | A | AAAAATAA others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0002a0002c0023t0009 | a0001c0001t0002g0117a0002c0023t0009g0103 | 2 | 268 | 0.0075 | 27 | c.192 others(46): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM20_chr10_110639336_110844468 | 110737177 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
a0001a0002a0016 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0144a0001c0001t0001g0246a0001c0001t0001g0248others(4): Show | 7 | 268 | 0.0261 | 27 | c.192 others(46): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM20_chr10_110639336_110844468 | 110809218 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02135.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0167a0001c0001t0001g0242 | 3 | 268 | 0.0112 | 27 | c.180 others(46): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM23_chr14_22888204_22924149 | 22910151 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02132.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0066a0003c0003t0001g0145 | 2 | 362 | 0.0055 | 27 | c.67- others(40): Show |
RBM23 | ENSG00000100461.18 | transcript | ENST00000359890.8 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
RBM25_chr14_73053534_73128899 | 73117210 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 388 | 0.0026 | 27 | c.244 others(46): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RBM26_chr13_79313868_79411255 | 79367406 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 328 | 0.0031 | 27 | c.896 others(42): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 6/21 | chr13 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673940 | G | GTTGTTGT others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01071.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0004 | a0002c0001t0001g0055a0002c0001t0002g0114a0002c0001t0004g0119 | 3 | 306 | 0.0098 | 27 | c.171 others(44): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBM33_chr7_155639661_155786480 | 155673940 | G | GTTGTTGT others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0017 | a0001c0017t0055 | a0001c0017t0055g0142 | 1 | 306 | 0.0033 | 27 | c.171 others(44): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBM33_chr7_155639661_155786480 | 155773635 | C | CTAAGTTG others(20): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0081a0001c0002t0082 | a0001c0002t0081g0089a0001c0002t0082g0088 | 2 | 306 | 0.0065 | 27 | c.337 others(44): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |