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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBMX_chrX_136868461_136885725 | 136884618 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 308 | 0.0033 | 22 | c.-40 others(33): Show |
RBMX | ENSG00000147274.14 | transcript | ENST00000320676.11 | protein_coding | 3894 | chrX | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139462558 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02155.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0122 others(5): Show |
8 | 266 | 0.0301 | 22 | c.74- others(35): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
RBPJL_chr20_45301840_45322824 | 45305802 | A | ATGCTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 446 | 0.0022 | 22 | c.-11 others(33): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1037 | chr20 | TogoVar | |||||||
RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0045 others(6): Show |
21 | 446 | 0.0471 | 22 | c.-11 others(33): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | |||||||
RBPJ_chr4_26316014_26439923 | 26316534 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0104 others(166): Show |
171 | 316 | 0.5411 | 22 | c.-44 others(33): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 4479 | chr4 | TogoVar | |||||||
RBPJ_chr4_26316014_26439923 | 26316534 | T | TGTATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0203 a0001c0001t0009g0204 |
2 | 316 | 0.0063 | 22 | c.-44 others(33): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 4479 | chr4 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30395461 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 304 | 0.0033 | 22 | c.66+ others(39): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30445649 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0147 others(12): Show |
15 | 304 | 0.0493 | 22 | c.67- others(39): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30516903 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0036 others(18): Show |
21 | 304 | 0.0691 | 22 | c.397 others(41): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30518687 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0011 | a0001c0001t0001g0234 a0002c0002t0011g0303 |
2 | 304 | 0.0066 | 22 | c.397 others(41): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30549772 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0035 | 1 | 304 | 0.0033 | 22 | c.528 others(39): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30549793 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0034 |
2 | 304 | 0.0066 | 22 | c.528 others(39): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30549805 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 304 | 0.0033 | 22 | c.528 others(39): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | chr8 | TogoVar | |||||||
RBX1_chr22_40946378_40978309 | 40961081 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0070 | 1 | 320 | 0.0031 | 22 | c.158 others(39): Show |
RBX1 | ENSG00000100387.9 | transcript | ENST00000216225.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0003g0042 a0001c0001t0006g0058 a0001c0001t0014g0096 others(3): Show |
6 | 310 | 0.0194 | 22 | c.*88 others(33): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173950420 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0294 | 1 | 310 | 0.0032 | 22 | c.252 others(41): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 174003385 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0105 | 1 | 310 | 0.0032 | 22 | c.-15 others(43): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122865845 | T | TATGCCAT others(15): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 320 | 0.0031 | 22 | c.132 others(39): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46367022 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0135 a0001c0001t0002g0034 a0001c0001t0005g0109 |
3 | 158 | 0.0190 | 22 | c.225 others(41): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCBTB1_chr13_49526946_49590558 | 49564583 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0190 | 1 | 418 | 0.0024 | 22 | c.277 others(39): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 4/12 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493225 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0283 a0001c0001t0002g0074 |
2 | 320 | 0.0063 | 22 | c.151 others(41): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493309 | A | ACTCTCTC others(15): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0136 |
2 | 320 | 0.0063 | 22 | c.151 others(41): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493311 | A | ACTCTCTC others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18969.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0302 |
3 | 320 | 0.0094 | 22 | c.151 others(41): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493315 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 320 | 0.0031 | 22 | c.151 others(41): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48499111 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 320 | 0.0031 | 22 | c.138 others(39): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 13/14 | chr13 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75072155 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0002g0190 a0002c0002t0002g0002 a0002c0002t0002g0054 others(12): Show |
20 | 270 | 0.0741 | 22 | c.324 others(39): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75072161 | C | CATATACA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 270 | 0.0037 | 22 | c.324 others(39): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75077424 | A | ACTCCTGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02080.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 others(1): Show |
4 | 270 | 0.0148 | 22 | c.-36 others(33): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 3623 | chr7 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543237 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0203 | 1 | 294 | 0.0034 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4249 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02273.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0019 a0001c0002t0005g0065 |
2 | 294 | 0.0068 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01258.hp2 HG01891.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0280 a0001c0003t0002g0265 a0001c0003t0002g0267 |
3 | 294 | 0.0102 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0066 | 1 | 294 | 0.0034 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 NA18957.hp2 NA18960.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0003g0036 |
3 | 294 | 0.0102 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAATA others(15): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0056 |
2 | 294 | 0.0068 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 294 | 0.0034 | 22 | c.*52 others(33): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0161 | 1 | 390 | 0.0026 | 22 | c.286 others(39): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 390 | 0.0026 | 22 | c.286 others(39): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102700227 | C | CTTTTTCT others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 a0001c0001t0005g0122 |
2 | 292 | 0.0069 | 22 | c.446 others(39): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167627369 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01257.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0030 | a0001c0001t0002g0121 a0001c0001t0002g0150 a0001c0001t0002g0163 others(8): Show |
11 | 350 | 0.0314 | 22 | c.-30 others(33): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 2862 | chr1 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0031 a0001c0001t0005g0030 |
2 | 350 | 0.0057 | 22 | c.6+3 others(33): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RD3_chr1_211471522_211497162 | 211481824 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0058 | a0003c0003t0058g0152 | 1 | 416 | 0.0024 | 22 | c.-11 others(37): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
RDH10_chr8_73289602_73330281 | 73325952 | G | GGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 396 | 0.0025 | 22 | c.*29 others(33): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 672 | chr8 | TogoVar | |||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01433.hp2 HG02071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0003g0220 a0001c0001t0005g0308 a0001c0001t0005g0309 others(2): Show |
5 | 376 | 0.0133 | 22 | c.-65 others(39): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73462884 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 188 | 0.0053 | 22 | c.160 others(41): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36048126 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0001g0308 others(3): Show |
6 | 392 | 0.0153 | 22 | c.101 others(39): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36061393 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03098.hp1 NA18963.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0357 a0001c0002t0001g0048 a0001c0002t0001g0060 |
3 | 392 | 0.0077 | 22 | c.271 others(39): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36082152 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03540.hp2 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0235 a0002c0005t0001g0241 |
2 | 392 | 0.0051 | 22 | c.440 others(39): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36082152 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0356 a0001c0007t0001g0355 |
2 | 392 | 0.0051 | 22 | c.440 others(39): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP1_chr2_86208993_86342626 | 86288032 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0002a0001c0002t0006 | a0001c0001t0019g0113 a0001c0002t0002g0135 a0001c0002t0002g0136 others(5): Show |
8 | 320 | 0.0250 | 22 | c.33- others(37): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
REEP3_chr10_63516401_63630128 | 63533710 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01109.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0178 a0001c0001t0001g0179 others(18): Show |
21 | 284 | 0.0739 | 22 | c.32+ others(39): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |