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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXMP4_chr20_33697758_33725310 | 33699466 | TGTCAGCC others(42): Show |
T | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0113 | 1 | 388 | 0.0026 | -49 | c.*81 others(60): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 3291 | chr20 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33699486 | AGCCGCCC others(42): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 2 | 388 | 0.0052 | -49 | c.*81 others(60): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 3271 | chr20 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33700021 | ATCCGGGA others(42): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0006 | a0004c0006t0030 | a0004c0006t0030g0050 | 1 | 388 | 0.0026 | -49 | c.*76 others(60): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 2736 | chr20 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365581 | TTATATAT others(42): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01070.hp1 others(43): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0098a0001c0001t0001g0103a0001c0001t0001g0124others(38): Show | 46 | 384 | 0.1198 | -49 | c.340 others(68): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135706996 | CGGGCGGG others(42): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 232 | 0.0043 | -49 | c.246 others(68): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 511035 | CGGCCAGG others(42): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02572.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0007others(1): Show | a0001c0001t0008a0001c0001t0015a0001c0001t0024others(5): Show | a0001c0001t0008g0294a0001c0001t0015g0039a0001c0001t0015g0122others(12): Show | 15 | 295 | 0.0509 | -49 | c.164 others(66): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 511475 | TAGGTAGG others(42): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0012t0059 | a0001c0001t0004g0089a0001c0012t0059g0107 | 2 | 295 | 0.0068 | -49 | c.164 others(66): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60548773 | TCCCCCCA others(42): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023a0001c0001t0003g0024a0001c0001t0003g0025others(1): Show | 4 | 358 | 0.0112 | -49 | c.47- others(66): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB44_chr6_36692826_36738184 | 36734319 | GAGAGAGA others(42): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03688.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0047a0001c0002t0003g0313a0001c0002t0003g0314 | 3 | 428 | 0.0070 | -49 | c.*22 others(60): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1136 | chr6 | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36734321 | GAGAGAGA others(42): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00741.hp2 others(30): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0009a0001c0002t0003a0001c0002t0020others(3): Show | a0001c0001t0009g0111a0001c0001t0009g0126a0001c0002t0003g0013others(28): Show | 33 | 428 | 0.0771 | -49 | c.*22 others(60): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1138 | chr6 | TogoVar | ||||||
RALA_chr7_39618572_39713120 | 39709155 | GCCTGTAA others(42): Show |
G | downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 366 | 0.0027 | -49 | c.*29 others(60): Show |
RALA | ENSG00000006451.8 | transcript | ENST00000005257.7 | protein_coding | 1036 | chr7 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6487685 | AAAAAAAA others(42): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 68 | 0.0147 | -49 | c.-63 others(70): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7080034 | ATATAGAT others(42): Show |
A | intron_variant | MODIFIER | HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0043 | a0001c0001t0022g0009a0001c0001t0043g0003 | 2 | 68 | 0.0294 | -49 | c.27+ others(66): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79446755 | TATGGGGC others(42): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0028others(10): Show | 13 | 154 | 0.0844 | -49 | c.-17 others(70): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79546516 | TGCCCATC others(42): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0060a0001c0001t0002g0129a0001c0001t0004g0089others(4): Show | 7 | 154 | 0.0455 | -49 | c.-31 others(70): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37000359 | AAGGGAGG others(42): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0075a0001c0001t0021g0062 | 2 | 354 | 0.0057 | -49 | c.303 others(68): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37000376 | TAGCCCCC others(42): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(85): Show |
a0001a0007a0010 | a0001c0001a0001c0009a0007c0008others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0259a0001c0001t0002g0260others(85): Show | 88 | 354 | 0.2486 | -49 | c.303 others(68): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37000725 | AGGTCAGC others(42): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 354 | 0.0028 | -49 | c.303 others(68): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBM19_chr12_113817057_113971325 | 113872488 | TGCCCGGC others(42): Show |
T | intron_variant | MODIFIER | HG00673.hp1 NA18970.hp2 NA19004.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0217a0003c0002t0001g0001others(3): Show | 7 | 356 | 0.0197 | -49 | c.255 others(70): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
RBM46_chr4_154776272_154833813 | 154831578 | CTTATAGG others(42): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 374 | 0.0027 | -49 | c.*35 others(60): Show |
RBM46 | ENSG00000151962.8 | transcript | ENST00000281722.8 | protein_coding | 2766 | chr4 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160439148 | TCCCCCCA others(42): Show |
T | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 328 | 0.0031 | -49 | c.75+ others(66): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29837646 | CATATATA others(42): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0051a0001c0001t0080others(2): Show | a0001c0001t0032g0115a0001c0001t0051g0084a0001c0001t0080g0033others(2): Show | 5 | 116 | 0.0431 | -49 | c.638 others(68): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBP3_chr10_47343363_47362881 | 47357784 | ATGTGCAT others(42): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 418 | 0.0024 | -49 | c.*32 others(58): Show |
RBP3 | ENSG00000265203.2 | transcript | ENST00000584701.2 | protein_coding | 4/4 | 328 | chr10 | TogoVar | |||||
RC3H2_chr9_122839556_122910359 | 122852380 | GCAGCCGC others(42): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0197 | 1 | 320 | 0.0031 | -49 | c.311 others(66): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 18/20 | chr9 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122867212 | ACCCCGTC others(42): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00738.hp2 others(34): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0012a0001c0002t0018others(6): Show | a0001c0002t0002g0061a0001c0002t0002g0067a0001c0002t0002g0068others(34): Show | 37 | 320 | 0.1156 | -49 | c.132 others(68): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122867873 | ACCCCGTC others(42): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(145): Show | 156 | 320 | 0.4875 | -49 | c.132 others(68): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102676675 | CGGGGGGC others(42): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0158 | 1 | 292 | 0.0034 | -49 | c.362 others(66): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RCOR1_chr14_102587649_102735561 | 102677190 | CGGCTGGC others(42): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0147 | 1 | 292 | 0.0034 | -49 | c.362 others(66): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
REEP6_chr19_1486181_1502927 | 1499209 | ACCTCCCG others(42): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0127a0001c0001t0006g0148 | 2 | 318 | 0.0063 | -49 | c.*19 others(60): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1283 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1499364 | GGGGGGCT others(42): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0061a0001c0001t0003g0022 | 2 | 318 | 0.0063 | -49 | c.*21 others(60): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1438 | chr19 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31471489 | GGGCTGAC others(42): Show |
G | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 344 | 0.0029 | -49 | c.-40 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 3798 | chr20 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31471496 | CCCCCCCA others(42): Show |
C | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 344 | 0.0029 | -49 | c.-40 others(60): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 3791 | chr20 | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16965239 | GGACGGGG others(42): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021a0001c0001t0008g0046 | 2 | 166 | 0.0121 | -49 | c.273 others(68): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RER1_chr1_2386841_2410436 | 2398171 | GCAGCCGA others(42): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 354 | 0.0028 | -49 | c.186 others(66): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RFX7_chr15_56082280_56248879 | 56110058 | TGCCCAGC others(42): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019 | a0001c0001t0016g0232a0001c0001t0016g0233a0001c0001t0016g0236others(2): Show | 5 | 360 | 0.0139 | -49 | c.402 others(66): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56110079 | TGGGAGGG others(42): Show |
T | intron_variant | MODIFIER | HG02572.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0240a0001c0001t0023g0241 | 2 | 360 | 0.0056 | -49 | c.402 others(66): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56110268 | GGGGGGGG others(42): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019 | a0001c0001t0016g0232a0001c0001t0016g0233a0001c0001t0019g0234others(1): Show | 4 | 360 | 0.0111 | -49 | c.402 others(66): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
RGS22_chr8_99955936_100111049 | 100098847 | TTATTTTA others(42): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02486.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0159a0001c0009t0001g0100a0001c0009t0001g0101 | 3 | 310 | 0.0097 | -49 | c.55- others(64): Show |
RGS22 | ENSG00000132554.21 | transcript | ENST00000360863.11 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241065215 | ATATATTA others(42): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0051a0001c0001t0001g0107others(8): Show | 11 | 112 | 0.0982 | -49 | c.175 others(68): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
RGSL1_chr1_182445146_182565597 | 182509432 | GGGCAGAG others(42): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 |
a0003a0017 | a0003c0003a0017c0014 | a0003c0003t0001a0017c0014t0001 | a0003c0003t0001g0117a0017c0014t0001g0167 | 2 | 338 | 0.0059 | -49 | c.182 others(70): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGSL1_chr1_182445146_182565597 | 182509648 | GCGGCTGG others(42): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02273.hp2 NA18949.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0047a0003c0003t0001g0062a0003c0003t0001g0089others(3): Show | 6 | 338 | 0.0178 | -49 | c.182 others(70): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGSL1_chr1_182445146_182565597 | 182509672 | ACCCCCCA others(42): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0159 | 1 | 338 | 0.0030 | -49 | c.182 others(70): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RHOC_chr1_112696131_112712127 | 112706422 | TCTCTCTC others(42): Show |
T | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 428 | 0.0023 | -49 | c.-77 others(64): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOXF1_chrX_120104051_120120913 | 120112390 | ATATGTAT others(42): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0044others(6): Show | 77 | 320 | 0.2406 | -49 | c.444 others(64): Show |
RHOXF1 | ENSG00000101883.6 | transcript | ENST00000217999.3 | protein_coding | 2/2 | chrX | TogoVar | ||||||
RIBC2_chr22_45408693_45437509 | 45421506 | TAGTATTA others(42): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 2 | 424 | 0.0047 | -49 | c.557 others(64): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130643528 | GCAGGTGC others(42): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 |
a0001a0012 | a0001c0020a0012c0035 | a0001c0020t0001a0012c0035t0001 | a0001c0020t0001g0140a0012c0035t0001g0102 | 2 | 180 | 0.0111 | -49 | c.-35 others(70): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130679975 | GCCGTGGG others(42): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 180 | 0.0056 | -49 | c.-35 others(70): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19844649 | TTCTTCTT others(42): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0015 | 1 | 276 | 0.0036 | -49 | c.-36 others(68): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RMDN2_chr2_37920287_38022744 | 37932782 | ACCTCCCG others(42): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01099.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0003g0013others(49): Show | 52 | 328 | 0.1585 | -49 | c.452 others(66): Show |
RMDN2 | ENSG00000115841.21 | transcript | ENST00000354545.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RMDN2_chr2_37920287_38022744 | 37932813 | GGGCTGAC others(42): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0159 | 1 | 328 | 0.0031 | -49 | c.452 others(66): Show |
RMDN2 | ENSG00000115841.21 | transcript | ENST00000354545.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |