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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PZP_chr12_9143840_9213395 | 9197780 | AATATATA others(26): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0213 | 1 | 334 | 0.0030 | -33 | c.756 others(48): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 7/35 | chr12 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445548 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 310 | 0.0032 | -33 | c.336 others(52): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445550 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 310 | 0.0032 | -33 | c.336 others(52): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445554 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0057 | 1 | 310 | 0.0032 | -33 | c.336 others(52): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60543352 | GAACTGTA others(26): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0004others(108): Show | 112 | 358 | 0.3129 | -33 | c.47- others(50): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(26): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01168.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0001t0001g0149others(34): Show | 37 | 358 | 0.1034 | -33 | c.119 others(50): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58627471 | TAAAAAAA others(26): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 220 | 0.0046 | -33 | c.252 others(50): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB40C_chr16_585066_634268 | 612179 | AGGGACAG others(26): Show |
A | intron_variant | MODIFIER | HG01261.hp1 NA18966.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242a0001c0001t0002g0260a0001c0001t0002g0295 | 3 | 350 | 0.0086 | -33 | c.143 others(50): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 612281 | AGGGACAG others(26): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0021others(18): Show | 21 | 350 | 0.0600 | -33 | c.143 others(50): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 612315 | AGGGACAG others(26): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247a0001c0001t0002g0265a0001c0001t0002g0268others(1): Show | 4 | 350 | 0.0114 | -33 | c.143 others(50): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 612349 | AGGGACAG others(26): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 350 | 0.0029 | -33 | c.143 others(50): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302279 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 400 | 0.0025 | -33 | c.542 others(48): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | NA19063.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0209 | 2 | 306 | 0.0065 | -33 | c.-89 others(50): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609200 | CACGCACA others(26): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0302 | 1 | 398 | 0.0025 | -33 | c.219 others(48): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5282090 | CCTCCCGC others(26): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0133a0001c0001t0011g0134 | 2 | 352 | 0.0057 | -33 | c.-39 others(42): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 193 | chr17 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5282096 | GCCGCGCT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00738.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(14): Show | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0108others(55): Show | 58 | 352 | 0.1648 | -33 | c.-39 others(42): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 187 | chr17 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174762649 | GGAGTTGC others(26): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0262 | 1 | 272 | 0.0037 | -33 | c.221 others(54): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 67940046 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 84 | 0.0119 | -33 | c.756 others(52): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAD51B_chr14_67814779_68483093 | 68456869 | ATTTTTTT others(26): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 84 | 0.0119 | -33 | c.958 others(52): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAD51C_chr17_58687602_58740611 | 58717271 | CCTATAGT others(26): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 330 | 0.0030 | -33 | c.838 others(50): Show |
RAD51C | ENSG00000108384.16 | transcript | ENST00000337432.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAD51D_chr17_35087221_35124860 | 35122174 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0181a0001c0001t0008g0125 | 2 | 416 | 0.0048 | -33 | c.-25 others(44): Show |
RAD51D | ENSG00000185379.21 | transcript | ENST00000345365.11 | protein_coding | 2315 | chr17 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4802517 | GACCCCCT others(26): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01496.hp2 others(10): Show |
a0006a0011a0018others(2): Show | a0006c0010a0011c0022a0011c0043others(4): Show | a0006c0010t0007a0006c0010t0023a0011c0022t0028others(6): Show | a0006c0010t0007g0016a0006c0010t0007g0100a0006c0010t0007g0101others(10): Show | 13 | 292 | 0.0445 | -33 | c.250 others(50): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
RAI1_chr17_17676458_17816453 | 17808386 | ATTATTTT others(26): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0170 | 1 | 252 | 0.0040 | -33 | c.566 others(50): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RALGAPB_chr20_38467843_38583858 | 38581600 | CGAGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0003t0005a0001c0003t0010others(4): Show | a0001c0002t0002g0128a0001c0003t0005g0203a0001c0003t0005g0204others(11): Show | 15 | 216 | 0.0694 | -33 | c.*66 others(44): Show |
RALGAPB | ENSG00000170471.15 | transcript | ENST00000262879.11 | protein_coding | 2743 | chr20 | TogoVar | ||||||
RAMP1_chr2_237854623_237917106 | 237916687 | TGTGTGTG others(26): Show |
T | downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 404 | 0.0025 | -33 | c.*49 others(44): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 4582 | chr2 | TogoVar | ||||||
RANBP9_chr6_13616498_13716835 | 13632118 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01255.hp1 others(7): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0007 | a0001c0002t0001a0002c0003t0001a0004c0007t0001 | a0001c0002t0001g0067a0001c0002t0001g0082a0001c0002t0001g0083others(7): Show | 10 | 360 | 0.0278 | -33 | c.194 others(50): Show |
RANBP9 | ENSG00000010017.13 | transcript | ENST00000011619.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
RAPGEF4_chr2_172730845_173057893 | 172857881 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 178 | 0.0056 | -33 | c.444 others(52): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAPGEF6_chr5_131418921_131640229 | 131516046 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01255.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0101a0001c0001t0002g0028a0001c0001t0002g0044others(11): Show | 14 | 324 | 0.0432 | -33 | c.627 others(50): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 7/27 | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114120075 | CCCCTCCC others(26): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 67 | 0.0299 | -33 | c.55+ others(50): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180096368 | CCCTTCCT others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0111 | 1 | 370 | 0.0027 | -33 | c.*51 others(44): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4426 | chr5 | TogoVar | ||||||
RASGRP4_chr19_38404058_38431219 | 38422585 | GGATCTAG others(26): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0144 | 1 | 410 | 0.0024 | -33 | c.24- others(46): Show |
RASGRP4 | ENSG00000171777.17 | transcript | ENST00000615439.5 | protein_coding | 1/16 | chr19 | TogoVar | ||||||
RAVER1_chr19_10311212_10338529 | 10331360 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 438 | 0.0023 | -33 | c.220 others(48): Show |
RAVER1 | ENSG00000161847.15 | transcript | ENST00000617231.5 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
RB1CC1_chr8_52617458_52719435 | 52698669 | GGTTTTTT others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(124): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(9): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0006others(120): Show | 127 | 306 | 0.4150 | -33 | c.-16 others(54): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48323481 | TTGATTTT others(26): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298 | 1 | 306 | 0.0033 | -33 | c.264 others(52): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6350444 | GAAAAAAA others(26): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 68 | 0.0147 | -33 | c.-64 others(52): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487685 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 68 | 0.0147 | -33 | c.-63 others(54): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487687 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0008 | 1 | 68 | 0.0147 | -33 | c.-63 others(54): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6641746 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 68 | 0.0147 | -33 | c.-63 others(52): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79555498 | GGTGGTGG others(26): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0031 | 1 | 154 | 0.0065 | -33 | c.-32 others(54): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110747863 | CTTTTAGA others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0060a0001c0001t0001g0066a0001c0001t0001g0068others(82): Show | 85 | 268 | 0.3172 | -33 | c.192 others(52): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM47_chr4_40418280_40634864 | 40592951 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0006 | a0001c0006t0076 | a0001c0006t0076g0068 | 1 | 278 | 0.0036 | -33 | c.-24 others(54): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40592953 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0073 | 1 | 278 | 0.0036 | -33 | c.-24 others(54): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40592957 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0070a0001c0003t0016a0001c0004t0011others(3): Show | a0001c0001t0070g0099a0001c0003t0016g0133a0001c0004t0011g0131others(3): Show | 6 | 278 | 0.0216 | -33 | c.-24 others(54): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM8A_chr1_145916556_145932484 | 145923015 | GGGTTCAG others(26): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0030 | 1 | 382 | 0.0026 | -33 | c.*28 others(44): Show |
RBM8A | ENSG00000265241.8 | transcript | ENST00000583313.7 | protein_coding | 6/6 | 2834 | chr1 | TogoVar | |||||
RBMS1_chr2_160267151_160498807 | 160493539 | CTCTTCCT others(26): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004a0001c0001t0009g0005a0001c0001t0009g0006others(2): Show | 5 | 328 | 0.0152 | -33 | c.-20 others(42): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/14 | 177 | chr2 | TogoVar | |||||
RBPJL_chr20_45301840_45322824 | 45321852 | CAGCCTGG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0073 | 1 | 446 | 0.0022 | -33 | c.*48 others(44): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 4029 | chr20 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122868863 | GTGTGTGT others(26): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0267others(1): Show | 4 | 320 | 0.0125 | -33 | c.132 others(52): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28533840 | CTTTTCTT others(26): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0238a0001c0004t0001g0239a0001c0004t0001g0240others(2): Show | 5 | 294 | 0.0170 | -33 | c.442 others(50): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0258a0001c0001t0002g0259a0001c0001t0002g0260others(67): Show | 80 | 294 | 0.2721 | -33 | c.442 others(50): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCOR1_chr14_102587649_102735561 | 102653950 | TCTTTCTT others(26): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0158 | 1 | 292 | 0.0034 | -33 | c.362 others(52): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar |