view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02257.hp1 NA19002.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0003c0004t0002g0023 |
4 | 286 | 0.0140 | 98 | c.120 others(115): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347183 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 411 | 0.0024 | 98 | c.120 others(115): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365557 | A | ATTATATA others(91): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182 | 1 | 320 | 0.0031 | 98 | c.340 others(117): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504452 | A | ACCCCCTC others(91): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 285 | 0.0035 | 98 | c.139 others(117): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58598255 | T | TTATATAT others(91): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG04204.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0002g0166 others(4): Show |
7 | 184 | 0.0380 | 98 | c.24+ others(115): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RABGAP1_chr9_122936020_123109866 | 122989084 | A | ACATGATA others(91): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 a0001c0001t0002g0225 |
2 | 256 | 0.0078 | 98 | c.591 others(113): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377645 | A | ATGCATAT others(91): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 248 | 0.0040 | 98 | c.351 others(115): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGAAG others(91): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0004 | a0003c0004t0018 | a0003c0004t0018g0023 | 1 | 12 | 0.0833 | 98 | c.-34 others(109): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886828 | G | GGTCAACC others(91): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0065others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(27): Show | a0001c0001t0001g0238 a0001c0001t0001g0250 a0001c0001t0001g0284 others(47): Show |
50 | 290 | 0.1724 | 98 | c.-32 others(109): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 3113 | chr7 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCA others(91): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 238 | 0.0042 | 98 | c.*62 others(109): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCA others(91): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 238 | 0.0042 | 98 | c.*62 others(109): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 243 | 0.0041 | 98 | c.-14 others(117): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0260 | 1 | 243 | 0.0041 | 98 | c.-14 others(117): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAPGEF3_chr12_47729363_47763880 | 47759899 | C | CTCCCAAT others(91): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0068 | 1 | 205 | 0.0049 | 98 | c.-13 others(109): Show |
RAPGEF3 | ENSG00000079337.16 | transcript | ENST00000449771.7 | protein_coding | 1020 | chr12 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114070754 | T | TCCACAGT others(91): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 others(15): Show |
18 | 63 | 0.2857 | 98 | c.173 others(115): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114070762 | C | CTTACACG others(91): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show |
6 | 66 | 0.0909 | 98 | c.173 others(115): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114120337 | G | GCCAGGCG others(91): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 47 | 0.0213 | 98 | c.55+ others(115): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7683010 | G | GTATATAT others(91): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0067 a0001c0001t0002g0012 a0001c0001t0017g0014 |
3 | 7 | 0.4286 | 98 | c.995 others(115): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7683010 | G | GTGTATAT others(91): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 5 | 0.2000 | 98 | c.995 others(115): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7683010 | G | GTGTATAT others(91): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0003g0006 |
2 | 6 | 0.3333 | 98 | c.995 others(115): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7683010 | G | GTATATAT others(91): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 11 | 0.0909 | 98 | c.105 others(117): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7683010 | G | GTATATAT others(91): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01070.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0096 a0001c0001t0001g0129 a0001c0001t0001g0135 others(15): Show |
18 | 28 | 0.6429 | 98 | c.105 others(117): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7683010 | G | GTGTATAT others(91): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0134 | 1 | 11 | 0.0909 | 98 | c.105 others(117): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7683010 | G | GTGTATAT others(91): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0220 |
2 | 12 | 0.1667 | 98 | c.105 others(117): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37069830 | T | TGTCCGGG others(91): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(6): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0010 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0011g0066 others(6): Show |
9 | 329 | 0.0274 | 98 | c.291 others(115): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 2/21 | chr20 | TogoVar | |||||||
RBM19_chr12_113817057_113971325 | 113872510 | G | GGGAGGGA others(91): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 305 | 0.0033 | 98 | c.255 others(119): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
RCBTB1_chr13_49526946_49590558 | 49589918 | G | GGGGGGGG others(91): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0101 | 1 | 416 | 0.0024 | 98 | c.-45 others(109): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 4361 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48527369 | G | GATATATA others(91): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show |
6 | 212 | 0.0283 | 98 | c.-21 others(117): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75487528 | A | AATATATA others(91): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0263 |
2 | 397 | 0.0050 | 98 | c.657 others(115): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102677035 | A | ATCCCCCC others(91): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0158 | 1 | 281 | 0.0036 | 98 | c.362 others(115): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102677035 | A | ATCCCCCC others(91): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02965.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017 | a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0017g0156 others(1): Show |
4 | 284 | 0.0141 | 98 | c.362 others(115): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341398 | T | TGGTGTGG others(91): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0292 | 1 | 310 | 0.0032 | 98 | c.188 others(117): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341470 | C | CGGGGGGA others(91): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0011 | 1 | 304 | 0.0033 | 98 | c.188 others(117): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 240777835 | A | AACTCCTA others(91): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0097 others(6): Show |
9 | 112 | 0.0804 | 98 | c.*7- others(113): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240777885 | A | ACTCCTAA others(91): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 others(57): Show |
60 | 98 | 0.6122 | 98 | c.*7- others(113): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240777885 | A | ACTCCTAA others(91): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02523.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0073 a0001c0001t0002g0088 others(2): Show |
5 | 43 | 0.1163 | 98 | c.*7- others(113): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240777934 | A | ACTCCTAA others(91): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 109 | 0.0092 | 98 | c.*7- others(113): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240778081 | A | ACTCCTAA others(91): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0031 others(23): Show |
26 | 105 | 0.2476 | 98 | c.*7- others(113): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924351 | T | TTCATACC others(91): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0108 a0001c0001t0002g0171 a0001c0001t0002g0206 others(9): Show |
12 | 172 | 0.0698 | 98 | c.58- others(115): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666185 | T | TTCTTTTT others(91): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01516.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 a0002c0002t0001g0220 |
2 | 272 | 0.0074 | 98 | c.3+2 others(113): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 168 | 0.0060 | 98 | c.3+2 others(113): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02165.hp1 HG02738.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0125 a0001c0001t0001g0231 a0001c0001t0002g0159 others(1): Show |
4 | 171 | 0.0234 | 98 | c.3+2 others(113): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01070.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(7): Show | a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0172 others(17): Show |
20 | 187 | 0.1070 | 98 | c.3+2 others(113): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03654.hp2 NA18951.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0228 others(1): Show |
4 | 171 | 0.0234 | 98 | c.3+2 others(113): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RMDN1_chr8_86467349_86513686 | 86502453 | C | CCATGCTG others(91): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0131 | 1 | 365 | 0.0027 | 98 | c.247 others(115): Show |
RMDN1 | ENSG00000176623.12 | transcript | ENST00000406452.8 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881859 | G | GATACATC others(91): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02602.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0125 a0004c0004t0002g0129 |
2 | 411 | 0.0049 | 98 | c.*21 others(109): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1939 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881859 | G | GATACATC others(91): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0371 | 1 | 410 | 0.0024 | 98 | c.*21 others(109): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1939 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882049 | G | GCTATATA others(91): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0233 | 1 | 409 | 0.0024 | 98 | c.*23 others(109): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2129 | chr13 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88948146 | T | TGCCCGGC others(91): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 218 | 0.0046 | 98 | c.65- others(113): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761901 | A | ATTCTTTC others(91): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019 | 1 | 267 | 0.0037 | 98 | c.-15 others(109): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1102 | chr19 | TogoVar |