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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3A_chr19_18191784_18209042 | 18197766 | CAACTTAT others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0032a0001c0001t0001g0068a0001c0001t0001g0070others(85): Show | 143 | 370 | 0.3865 | -37 | c.473 others(52): Show |
RAB3A | ENSG00000105649.10 | transcript | ENST00000222256.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
RAB3IP_chr12_69733860_69828199 | 69807412 | CTCCCAGA others(30): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0004 | a0002c0004t0046 | a0002c0004t0046g0278 | 1 | 402 | 0.0025 | -37 | c.113 others(56): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB44_chr6_36692826_36738184 | 36734335 | GAGAGAGA others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02486.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0005a0002c0009others(3): Show | a0001c0004t0005a0002c0005t0005a0002c0009t0005others(3): Show | a0001c0004t0005g0052a0001c0004t0005g0084a0002c0005t0005g0032others(7): Show | 11 | 428 | 0.0257 | -37 | c.*22 others(48): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1152 | chr6 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302273 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 400 | 0.0025 | -37 | c.542 others(52): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB5IF_chr20_36600779_36617557 | 36609194 | CGCACACA others(30): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0303 | 1 | 398 | 0.0025 | -37 | c.219 others(52): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
RABGGTB_chr1_75781256_75800086 | 75793992 | ACCTAAGA others(30): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0012others(11): Show | 56 | 404 | 0.1386 | -37 | c.706 others(50): Show |
RABGGTB | ENSG00000137955.16 | transcript | ENST00000319942.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAD17_chr5_69364818_69419801 | 69368562 | TTGTGGGG others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0024a0003c0003t0001g0026 | 2 | 359 | 0.0056 | -37 | c.-17 others(48): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 1255 | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69408191 | ATTTTTTG others(30): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 HG02602.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120a0002c0002t0001g0121a0002c0002t0001g0129others(2): Show | 5 | 359 | 0.0139 | -37 | c.169 others(56): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 17/18 | chr5 | TogoVar | ||||||
RALGAPA1_chr14_35533356_35814295 | 35792780 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 272 | 0.0037 | -37 | c.106 others(56): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 1/41 | chr14 | TogoVar | ||||||
RALY_chr20_33988911_34089884 | 34036921 | TTTTTTAT others(30): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0068 | 1 | 290 | 0.0035 | -37 | c.-10 others(54): Show |
RALY | ENSG00000125970.12 | transcript | ENST00000246194.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RAMP1_chr2_237854623_237917106 | 237875404 | TTCTGCCC others(30): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027 | 3 | 404 | 0.0074 | -37 | c.53- others(52): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAPGEF4_chr2_172730845_173057893 | 172857881 | CAAAAAAA others(30): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG03490.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144a0001c0001t0001g0169a0001c0001t0002g0003others(3): Show | 6 | 178 | 0.0337 | -37 | c.444 others(56): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAPGEF6_chr5_131418921_131640229 | 131516045 | CCTTTTTT others(30): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01496.hp2 HG01981.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0158a0001c0001t0005g0005a0001c0001t0005g0063others(11): Show | 14 | 324 | 0.0432 | -37 | c.627 others(54): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 7/27 | chr5 | TogoVar | ||||||
RARS2_chr6_87508938_87594987 | 87542858 | AATGTTAA others(30): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 382 | 0.0026 | -37 | c.536 others(52): Show |
RARS2 | ENSG00000146282.19 | transcript | ENST00000369536.10 | protein_coding | 7/19 | chr6 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114119662 | TTCTCTCC others(30): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 67 | 0.0149 | -37 | c.55+ others(54): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180096924 | AGCAGGAT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0060 | 1 | 370 | 0.0027 | -37 | c.*45 others(48): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 3870 | chr5 | TogoVar | ||||||
RASL11B_chr4_52857317_52871835 | 52866010 | ACTGAGCC others(30): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 428 | 0.0023 | -37 | c.*20 others(46): Show |
RASL11B | ENSG00000128045.7 | transcript | ENST00000248706.5 | protein_coding | 4/4 | 206 | chr4 | TogoVar | |||||
RB1CC1_chr8_52617458_52719435 | 52698669 | GGTTTTTT others(30): Show |
G | intron_variant | MODIFIER | NA18966.hp2 NA18975.hp1 NA19057.hp2 |
a0002a0003 | a0002c0001a0003c0007 | a0002c0001t0002a0003c0007t0002 | a0002c0001t0002g0220a0002c0001t0002g0263a0003c0007t0002g0244 | 3 | 306 | 0.0098 | -37 | c.-16 others(58): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
RBBP9_chr20_18481540_18502225 | 18501661 | TTTCTAAA others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 NA18956.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0023 | a0001c0001t0013g0106a0001c0001t0023g0042 | 3 | 454 | 0.0066 | -37 | c.-45 others(48): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 4437 | chr20 | TogoVar | ||||||
RBFA_chr18_80029434_80055651 | 80033957 | ACCTCGCG others(30): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(173): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(71): Show | 176 | 414 | 0.4251 | -37 | c.-53 others(46): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 476 | chr18 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6637139 | ATATATAA others(30): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 | 1 | 68 | 0.0147 | -37 | c.-63 others(56): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7292179 | CATATATG others(30): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02148.hp1 HG02451.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0012a0001c0001t0002g0015a0001c0001t0003g0041others(16): Show | 19 | 68 | 0.2794 | -37 | c.28- others(56): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79554286 | TCCTCTCC others(30): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 154 | 0.0065 | -37 | c.-32 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554408 | CTCACTCA others(30): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01993.hp2 HG02132.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0078others(10): Show | 13 | 154 | 0.0844 | -37 | c.-32 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79588731 | ATCCTGAG others(30): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0081others(5): Show | 8 | 154 | 0.0520 | -37 | c.-32 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79588923 | ACTTGGAC others(30): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0081others(5): Show | 8 | 154 | 0.0520 | -37 | c.-32 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM26_chr13_79313868_79411255 | 79373331 | AAATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18906.hp1 NA18959.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0273a0001c0002t0001g0274a0001c0002t0001g0278others(2): Show | 5 | 328 | 0.0152 | -37 | c.328 others(54): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30426823 | CCTGTGGG others(30): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 304 | 0.0033 | -37 | c.66+ others(54): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RCCD1_chr15_90949884_90968125 | 90967416 | CCCCTTTT others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 432 | 0.0023 | -37 | c.*56 others(48): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 4292 | chr15 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62199209 | AAAGTTTC others(30): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp2 others(12): Show |
a0001 | a0001c0004 | a0001c0004t0011a0001c0004t0015a0001c0004t0016others(4): Show | a0001c0004t0011g0037a0001c0004t0011g0038a0001c0004t0011g0039others(12): Show | 15 | 340 | 0.0441 | -37 | c.526 others(56): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 1/28 | chr18 | TogoVar | ||||||
RETREG3_chr17_42574515_42614374 | 42597591 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 360 | 0.0028 | -37 | c.240 others(54): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(30): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01255.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163a0002c0002t0001g0164a0002c0002t0001g0165others(9): Show | 12 | 288 | 0.0417 | -37 | c.925 others(56): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16366193 | GCTGGTGA others(30): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01978.hp1 HG04204.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0007 | a0001c0001t0001g0233a0001c0002t0002g0062a0001c0002t0002g0064others(4): Show | 7 | 268 | 0.0261 | -37 | c.103 others(56): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074230 | AGAAAGAA others(30): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 304 | 0.0033 | -37 | c.-51 others(48): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4212 | chrX | TogoVar | ||||||
RGPD5_chr2_109789305_109862705 | 109818314 | ATATAGTT others(30): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0015 | 1 | 40 | 0.0250 | -37 | c.979 others(54): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGS12_chr4_3288021_3444913 | 3296055 | ACCCCCCT others(30): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG02572.hp1 others(3): Show |
a0001a0003 | a0001c0014a0003c0017a0003c0048others(1): Show | a0001c0014t0001a0003c0017t0001a0003c0048t0001others(1): Show | a0001c0014t0001g0134a0003c0017t0001g0252a0003c0017t0001g0255others(3): Show | 6 | 312 | 0.0192 | -37 | c.-10 others(56): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RGS17_chr6_152999459_153136282 | 153054055 | ATAATATA others(30): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 338 | 0.0030 | -37 | c.-25 others(56): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS7BP_chr5_64501015_64617319 | 64605986 | CATATATA others(30): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0024others(24): Show | 27 | 280 | 0.0964 | -37 | c.683 others(54): Show |
RGS7BP | ENSG00000186479.5 | transcript | ENST00000334025.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RGS7_chr1_240770514_241362205 | 241119882 | GTCTTTCA others(30): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0095 | 2 | 112 | 0.0179 | -37 | c.79- others(54): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGSL1_chr1_182445146_182565597 | 182509349 | TGGCCGGG others(30): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0058 | 1 | 338 | 0.0030 | -37 | c.182 others(58): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RHOF_chr12_121772754_121798688 | 121796634 | AGCAGTCC others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -37 | c.-30 others(48): Show |
RHOF | ENSG00000139725.8 | transcript | ENST00000267205.7 | protein_coding | 2947 | chr12 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143372937 | GTGGGGGT others(30): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 426 | 0.0024 | -37 | c.61- others(52): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1645534 | CCGCATCA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp1 NA18960.hp1 NA18969.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0047 | 5 | 375 | 0.0133 | -37 | c.*87 others(46): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 615 | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130524313 | TGAGCCAG others(30): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp2 HG01516.hp1 |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0001a0001c0002t0001a0001c0025t0001 | a0001c0001t0001g0145a0001c0002t0001g0021a0001c0025t0001g0071 | 3 | 180 | 0.0167 | -37 | c.-21 others(56): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130524351 | GAGCCAGG others(30): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0155a0001c0006t0001g0009 | 2 | 180 | 0.0111 | -37 | c.-21 others(56): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130657643 | AGAGGATG others(30): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01069.hp1 others(65): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0040others(65): Show | 68 | 180 | 0.3778 | -37 | c.-35 others(58): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19844655 | TTCTTCTT others(30): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 276 | 0.0036 | -37 | c.-36 others(56): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19844670 | CTTCTTCT others(30): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01069.hp2 others(28): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0197others(28): Show | 31 | 276 | 0.1123 | -37 | c.-36 others(56): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(30): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp2 others(57): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0002g0009others(54): Show | 60 | 372 | 0.1613 | -37 | c.554 others(52): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RNF145_chr5_159152409_159214553 | 159189091 | TATAGATC others(30): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02717.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0061a0001c0001t0001g0070 | 4 | 394 | 0.0102 | -37 | c.293 others(54): Show |
RNF145 | ENSG00000145860.13 | transcript | ENST00000424310.7 | protein_coding | 3/10 | chr5 | TogoVar |