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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKD2_chr19_46669316_46722114 | 46712233 | GACCCTGC others(36): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0342 | 1 | 376 | 0.0027 | -43 | c.380 others(60): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 2/17 | chr19 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154054 | CGGGGGGC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0271 | 1 | 336 | 0.0030 | -43 | c.-46 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4593 | chr13 | TogoVar | |||||||
PRPF19_chr11_60885547_60911585 | 60911041 | GAGGGAGA others(36): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 348 | 0.0029 | -43 | c.-47 others(54): Show |
PRPF19 | ENSG00000110107.9 | transcript | ENST00000227524.9 | protein_coding | 4457 | chr11 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351456 | TTTATATA others(36): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0009 | a0002c0003t0002g0044 a0002c0003t0009g0073 |
2 | 270 | 0.0074 | -43 | c.-12 others(64): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171488018 | CAGCCCCC others(36): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(265): Show |
270 | 334 | 0.8084 | -43 | c.-58 others(60): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703875 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 334 | 0.0030 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2844 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703877 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 a0002c0002t0002g0054 |
2 | 332 | 0.0060 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2846 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703879 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01074.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0029others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(14): Show |
39 | 327 | 0.1193 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2848 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703881 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0047 | a0001c0001t0002g0001 a0001c0001t0047g0001 |
3 | 330 | 0.0091 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2850 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18752543 | ATATTATA others(36): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 226 | 0.0044 | -43 | c.217 others(64): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02273.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0012a0001c0001t0050a0001c0002t0038others(1): Show | a0001c0001t0012g0177 a0001c0001t0050g0178 a0001c0002t0038g0124 others(2): Show |
5 | 198 | 0.0253 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865248 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0026 | 1 | 203 | 0.0049 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865250 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG02622.hp1 NA20300.hp2 |
a0002 | a0002c0007 | a0002c0007t0002a0002c0007t0021 | a0002c0007t0002g0170 a0002c0007t0021g0002 |
2 | 215 | 0.0093 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865252 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03491.hp2 HG03654.hp2 |
a0002a0004 | a0002c0007a0004c0009 | a0002c0007t0027a0004c0009t0009a0004c0009t0076 | a0002c0007t0027g0168 a0004c0009t0009g0033 a0004c0009t0076g0155 |
3 | 225 | 0.0133 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73220886 | ACAGAGAG others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0348 | 1 | 376 | 0.0027 | -43 | c.*15 others(54): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1598 | chr14 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(36): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG03239.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020 a0003c0003t0001g0301 a0003c0003t0001g0302 others(1): Show |
4 | 50 | 0.0800 | -43 | c.*19 others(54): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214436799 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(121): Show |
124 | 270 | 0.4593 | -43 | c.344 others(62): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
PTPN18_chr2_130351056_130380405 | 130364727 | CGGAGCTT others(36): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 377 | 0.0027 | -43 | c.415 others(60): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70733439 | AAAAAAAG others(36): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0029 |
2 | 202 | 0.0099 | -43 | c.100 others(64): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42634018 | ATATAATA others(36): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0016 | a0002c0016t0030 | a0002c0016t0030g0014 | 1 | 62 | 0.0161 | -43 | c.115 others(64): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44866380 | CACACACA others(36): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0149 a0001c0001t0001g0181 a0001c0001t0003g0001 others(56): Show |
91 | 442 | 0.2059 | -43 | c.116 others(58): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
PTTG1_chr5_160416855_160433739 | 160431574 | ATTGAAAG others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 466 | 0.0021 | -43 | c.*28 others(54): Show |
PTTG1 | ENSG00000164611.13 | transcript | ENST00000352433.10 | protein_coding | 2836 | chr5 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(36): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA19066.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0293 a0001c0002t0003g0311 |
2 | 267 | 0.0075 | -43 | c.150 others(62): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1368844 | TTCGGGTC others(36): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(193): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0211 a0001c0001t0002g0146 a0001c0001t0002g0147 others(132): Show |
196 | 365 | 0.5370 | -43 | c.142 others(60): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1368918 | CCAGCCCA others(36): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0013others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0260 others(89): Show |
147 | 356 | 0.4129 | -43 | c.142 others(60): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51534597 | CAGCCGCC others(36): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02818.hp2 others(4): Show |
a0004a0007a0026others(1): Show | a0004c0041a0007c0006a0026c0019others(1): Show | a0004c0041t0001a0007c0006t0001a0026c0019t0001others(1): Show | a0004c0041t0001g0057 a0007c0006t0001g0042 a0007c0006t0001g0043 others(4): Show |
7 | 120 | 0.0583 | -43 | c.380 others(62): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1639995 | GCCCCGGG others(36): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(96): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0003a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 others(96): Show |
99 | 159 | 0.6226 | -43 | c.395 others(60): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703185 | ACAACTCC others(36): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 320 | 0.0031 | -43 | c.201 others(62): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1746042 | CTATCCAC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 320 | 0.0031 | -43 | c.-16 others(54): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1528 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1746761 | ACACTCAA others(36): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 320 | 0.0031 | -43 | c.-23 others(54): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 2247 | chr2 | TogoVar | |||||||
PXN_chr12_120205447_120270730 | 120230015 | TGCATTCT others(36): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 322 | 0.0031 | -43 | c.14- others(58): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121365549 | TAATATAT others(36): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(117): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0007t0018others(5): Show | a0001c0001t0001g0075 a0001c0001t0019g0087 a0001c0001t0019g0130 others(105): Show |
120 | 382 | 0.3141 | -43 | c.340 others(62): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234034 | AGGACAAA others(36): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0012 | a0001c0001t0020g0196 a0001c0001t0020g0282 a0001c0002t0012g0012 others(3): Show |
8 | 390 | 0.0205 | -43 | c.329 others(60): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
R3HDML_chr20_44332043_44356238 | 44351244 | AACCTGGC others(36): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 432 | 0.0023 | -43 | c.*45 others(52): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 7 | chr20 | TogoVar | |||||||
RAB15_chr14_64940816_64977336 | 64961041 | ATGTTATC others(36): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0182 | 1 | 380 | 0.0026 | -43 | c.125 others(60): Show |
RAB15 | ENSG00000139998.16 | transcript | ENST00000533601.7 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58729739 | TTATATTT others(36): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0002g0061 a0001c0001t0004g0120 a0001c0001t0004g0188 others(13): Show |
16 | 218 | 0.0734 | -43 | c.371 others(60): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82676224 | TCACACAC others(36): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0060 a0001c0001t0002g0083 a0001c0001t0002g0289 others(21): Show |
24 | 336 | 0.0714 | -43 | c.143 others(62): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82691993 | AGCAGAGC others(36): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG03017.hp2 HG03225.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(7): Show |
10 | 264 | 0.0379 | -43 | c.142 others(60): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5A_chr3_19942097_19990175 | 19984942 | CCTTCCTT others(36): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0251 | 1 | 346 | 0.0029 | -43 | c.*11 others(54): Show |
RAB5A | ENSG00000144566.11 | transcript | ENST00000273047.9 | protein_coding | 6/6 | 1120 | chr3 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609196 | CACACACG others(36): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 396 | 0.0025 | -43 | c.219 others(58): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136825617 | ATGTGGTC others(36): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 328 | 0.0030 | -43 | c.266 others(58): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136833136 | GCCTGGGT others(36): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 316 | 0.0032 | -43 | c.705 others(58): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAPGEF1_chr9_131571775_131745076 | 131726595 | CAGCCTGG others(36): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0065 others(70): Show |
75 | 366 | 0.2049 | -43 | c.61+ others(60): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 1/26 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103674 | CCCACCCC others(36): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 66 | 0.0152 | -43 | c.55+ others(60): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103682 | TGATGACA others(36): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01943.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0034 others(18): Show |
21 | 47 | 0.4468 | -43 | c.55+ others(60): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6487683 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0027 | a0001c0001t0003g0041 a0001c0001t0006g0038 a0001c0001t0027g0042 |
3 | 68 | 0.0441 | -43 | c.-63 others(64): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6487685 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0003g0010 others(4): Show |
7 | 65 | 0.1077 | -43 | c.-63 others(64): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6487687 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 64 | 0.0156 | -43 | c.-63 others(64): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79198057 | GTCGTGTG others(36): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0143 | 1 | 151 | 0.0066 | -43 | c.-34 others(62): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79484481 | CCTGGGTG others(36): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 152 | 0.0066 | -43 | c.-31 others(62): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar |