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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAVER2_chr1_64740075_64838232 | 64830890 | CCAGAAGG others(31): Show |
C | frameshift_variant | HIGH | HG01256.hp1 | a0000 | a0000c0009 | a0000c0009t0021 | a0000c0009t0021g0145 | 1 | 364 | 0.0028 | -38 | c.198 others(47): Show |
p.Glu others(5): Show |
RAVER2 | ENSG00000162437.15 | transcript | ENST00000294428.8 | protein_coding | 12/12 | 2083/4421 | 1985/2076 | 662/691 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RBBP5_chr1_205081142_205126978 | 205093499 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 390 | 0.0026 | -38 | c.158 others(57): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 22929485 | TGTGTGTG others(31): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185a0001c0002t0002g0186a0001c0002t0002g0187others(2): Show | 5 | 330 | 0.0152 | -38 | c.-41 others(49): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 3842 | chr18 | TogoVar | ||||||
RBBP9_chr20_18481540_18502225 | 18486135 | TAAAAATA others(31): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0009a0001c0001t0002g0016others(18): Show | 78 | 454 | 0.1718 | -38 | c.*35 others(49): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 404 | chr20 | TogoVar | ||||||
RBCK1_chr20_403299_437139 | 411751 | TCTTCCCA others(31): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 452 | 0.0022 | -38 | c.167 others(55): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7008654 | TCCCTTCC others(31): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0036 | 1 | 68 | 0.0147 | -38 | c.-15 others(57): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79203324 | TGAAGGGG others(31): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0042others(14): Show | 17 | 154 | 0.1104 | -38 | c.-34 others(57): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79203468 | GTGGAGGG others(31): Show |
G | intron_variant | MODIFIER | HG01884.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0092a0001c0002t0004g0091 | 2 | 154 | 0.0130 | -38 | c.-34 others(57): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554425 | CTCACCTG others(31): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 154 | 0.0065 | -38 | c.-32 others(59): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM26_chr13_79313868_79411255 | 79373703 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(94): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0019others(4): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(91): Show | 97 | 328 | 0.2957 | -38 | c.328 others(55): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
RBM28_chr7_128292685_128348908 | 128346632 | CTCTCTCT others(31): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 382 | 0.0026 | -38 | c.-28 others(49): Show |
RBM28 | ENSG00000106344.8 | transcript | ENST00000223073.6 | protein_coding | 2725 | chr7 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29820188 | CAAAAAAA others(31): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0064 | a0001c0003t0064g0072 | 1 | 116 | 0.0086 | -38 | c.638 others(57): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30568950 | CGCCCTCC others(31): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03516.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0023a0002c0002t0011 | a0001c0001t0011g0135a0001c0001t0023g0143a0002c0002t0011g0303 | 3 | 304 | 0.0099 | -38 | c.*11 others(57): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RCBTB2_chr13_48483963_48538080 | 48493251 | ACACACAC others(31): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0301 | 1 | 320 | 0.0031 | -38 | c.151 others(57): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653941 | TTCTTTCT others(31): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0142 | 1 | 292 | 0.0034 | -38 | c.362 others(57): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RCSD1_chr1_167625232_167713696 | 167667103 | CCATTGTA others(31): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0334 | 1 | 350 | 0.0029 | -38 | c.7-1 others(53): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RDX_chr11_110224441_110301614 | 110234526 | GTACTAAG others(31): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 376 | 0.0027 | -38 | c.134 others(57): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 12/13 | chr11 | TogoVar | ||||||
RELA_chr11_65648601_65667916 | 65660805 | AAGACAGG others(31): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 404 | 0.0025 | -38 | c.336 others(53): Show |
RELA | ENSG00000173039.20 | transcript | ENST00000406246.8 | protein_coding | 4/10 | chr11 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(31): Show |
C | intron_variant | MODIFIER | HG02738.hp1 NA19075.hp2 |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0010c0012t0001 | a0002c0002t0001g0238a0010c0012t0001g0036 | 2 | 288 | 0.0069 | -38 | c.925 others(57): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111422575 | TACACATA others(31): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02083.hp2 others(1): Show |
a0006 | a0006c0004 | a0006c0004t0003 | a0006c0004t0003g0256a0006c0004t0003g0257a0006c0004t0003g0258others(1): Show | 4 | 288 | 0.0139 | -38 | c.140 others(55): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
RFESD_chr5_95641777_95663082 | 95660581 | TTAGCTGT others(31): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 410 | 0.0024 | -38 | c.*42 others(49): Show |
RFESD | ENSG00000175449.15 | transcript | ENST00000380005.9 | protein_coding | 2500 | chr5 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16345806 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG02976.hp2 NA18522.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0103a0002c0003t0009g0178 | 2 | 268 | 0.0075 | -38 | c.114 others(59): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
RGPD2_chr2_87750960_87830796 | 87825565 | CCGCCGCC others(31): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 176 | 0.0057 | -38 | c.72+ others(49): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3375651 | CCCTCATC others(31): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0123a0001c0005t0001g0124 | 2 | 312 | 0.0064 | -38 | c.199 others(59): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RGS13_chr1_192631147_192665311 | 192641216 | GAAAGAGA others(31): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02559.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010a0001c0001t0003g0185a0001c0001t0003g0192others(1): Show | 7 | 420 | 0.0167 | -38 | c.-5+ others(53): Show |
RGS13 | ENSG00000127074.15 | transcript | ENST00000391995.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGS17_chr6_152999459_153136282 | 153053923 | ATGTATAT others(31): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0107a0001c0001t0002g0038others(10): Show | 13 | 338 | 0.0385 | -38 | c.-25 others(55): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS22_chr8_99955936_100111049 | 100051556 | TATATAAA others(31): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 310 | 0.0032 | -38 | c.168 others(57): Show |
RGS22 | ENSG00000132554.21 | transcript | ENST00000360863.11 | protein_coding | 10/27 | chr8 | TogoVar | ||||||
RGS22_chr8_99955936_100111049 | 100051639 | ATATGTTT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(60): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0003a0004c0008others(2): Show | a0001c0001t0001a0001c0003t0001a0004c0008t0001others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0049others(60): Show | 63 | 310 | 0.2032 | -38 | c.168 others(57): Show |
RGS22 | ENSG00000132554.21 | transcript | ENST00000360863.11 | protein_coding | 10/27 | chr8 | TogoVar | ||||||
RGS5_chr1_163137299_163207916 | 163202330 | AACCAGCC others(31): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 322 | 0.0031 | -38 | c.44+ others(51): Show |
RGS5 | ENSG00000143248.13 | transcript | ENST00000313961.10 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32276778 | TTACTCCG others(31): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0199a0001c0001t0001g0200others(1): Show | 4 | 306 | 0.0131 | -38 | c.136 others(55): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RHBDL3_chr17_32260832_32329659 | 32276840 | CCGGCCCT others(31): Show |
C | intron_variant | MODIFIER | HG03688.hp1 HG03942.hp2 HG04115.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088a0002c0002t0001g0089a0002c0002t0001g0090others(1): Show | 4 | 306 | 0.0131 | -38 | c.136 others(55): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RHOBTB2_chr8_22994548_23025199 | 22996531 | GTGTGTGT others(31): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 | 2 | 358 | 0.0056 | -38 | c.-35 others(49): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 3016 | chr8 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706432 | CACACACA others(31): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 428 | 0.0023 | -38 | c.-77 others(53): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706452 | CACACACA others(31): Show |
C | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 428 | 0.0023 | -38 | c.-77 others(53): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706454 | CACACACA others(31): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02809.hp1 HG03834.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0026a0001c0001t0001g0095a0001c0001t0001g0096others(2): Show | 7 | 428 | 0.0164 | -38 | c.-77 others(53): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706458 | CACACACC others(31): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 428 | 0.0023 | -38 | c.-77 others(53): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOQ_chr2_46537490_46589688 | 46546451 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG02486.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0261a0001c0001t0001g0262a0001c0001t0001g0263others(6): Show | 9 | 332 | 0.0271 | -38 | c.201 others(55): Show |
RHOQ | ENSG00000119729.12 | transcript | ENST00000238738.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RHPN1_chr8_143363876_143389221 | 143372919 | TGGGTTCC others(31): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02145.hp2 HG02451.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0005a0003c0006t0005 | a0001c0001t0005g0014a0001c0001t0005g0016a0001c0001t0005g0078others(4): Show | 13 | 426 | 0.0305 | -38 | c.61- others(53): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RHPN1_chr8_143363876_143389221 | 143373240 | CGGTGTGG others(31): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 426 | 0.0024 | -38 | c.61- others(53): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RHPN1_chr8_143363876_143389221 | 143373377 | TGTGGGTT others(31): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 426 | 0.0024 | -38 | c.61- others(53): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RHPN1_chr8_143363876_143389221 | 143373417 | TGGGTTCC others(31): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032a0001c0001t0005g0035a0001c0001t0005g0116 | 4 | 426 | 0.0094 | -38 | c.61- others(53): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RHPN1_chr8_143363876_143389221 | 143373571 | TGGGTTCC others(31): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 426 | 0.0024 | -38 | c.61- others(53): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIGI_chr9_32450302_32531196 | 32520815 | GTGGTGGC others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0025a0001c0001t0001g0149a0001c0001t0001g0174others(167): Show | 172 | 344 | 0.5000 | -38 | c.106 others(55): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
RIIAD1_chr1_151716522_151734805 | 151733041 | GCCTGGGA others(31): Show |
G | downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 418 | 0.0024 | -38 | c.*36 others(49): Show |
RIIAD1 | ENSG00000178796.13 | transcript | ENST00000479191.2 | protein_coding | 3237 | chr1 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1643238 | TCCCCGCC others(31): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00609.hp1 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0021others(25): Show | 68 | 375 | 0.1813 | -38 | c.*31 others(49): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 2911 | chr17 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1643273 | CCCGCCCC others(31): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG04184.hp2 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0004a0004c0006t0005 | a0004c0006t0004g0016a0004c0006t0005g0020 | 4 | 375 | 0.0107 | -38 | c.*31 others(49): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 2876 | chr17 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1643293 | CCGCCCCG others(31): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0072 | 1 | 375 | 0.0027 | -38 | c.*31 others(49): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 2856 | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130479580 | AGAGTCCG others(31): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01891.hp1 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0106a0001c0001t0001g0127a0001c0001t0002g0091others(31): Show | 34 | 180 | 0.1889 | -38 | c.-3- others(51): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130532177 | GTACGTCT others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0028others(111): Show | 114 | 180 | 0.6333 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130532353 | GTAGCCTC others(31): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0001a0003 | a0001c0004a0003c0030 | a0001c0004t0001a0003c0030t0002 | a0001c0004t0001g0180a0003c0030t0002g0137 | 2 | 180 | 0.0111 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar |