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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRS_chr19_5200508_5345812 | 5272595 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02132.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0010a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0007others(3): Show | a0001c0001t0001g0232 a0001c0001t0002g0160 a0001c0010t0007g0039 others(6): Show |
9 | 276 | 0.0326 | -19 | c.379 others(34): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 4/37 | chr19 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42686457 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01261.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0007a0001c0021others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0022others(5): Show | a0001c0002t0002g0058 a0001c0002t0006g0036 a0001c0002t0006g0039 others(7): Show |
10 | 62 | 0.1613 | -19 | c.860 others(36): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 6/30 | chr20 | TogoVar | |||||||
PTPRU_chr1_29231522_29331800 | 29277803 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0001 | a0001c0002t0001g0255 a0001c0012t0001g0268 |
2 | 296 | 0.0068 | -19 | c.145 others(38): Show |
PTPRU | ENSG00000060656.20 | transcript | ENST00000373779.8 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTRHD1_chr2_24784728_24798391 | 24788581 | TTTTTTTT others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 408 | 0.0025 | -19 | c.*18 others(30): Show |
PTRHD1 | ENSG00000184924.6 | transcript | ENST00000328379.6 | protein_coding | 1146 | chr2 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30999606 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0085 a0001c0002t0001g0144 a0001c0002t0003g0046 others(2): Show |
5 | 334 | 0.0150 | -19 | c.721 others(36): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 5/21 | chr1 | TogoVar | |||||||
PUS3_chr11_125888485_125908206 | 125904265 | TCGCCCCG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(277): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0014a0003c0004others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(76): Show |
280 | 450 | 0.6222 | -19 | c.-11 others(30): Show |
PUS3 | ENSG00000110060.9 | transcript | ENST00000227474.8 | protein_coding | 1060 | chr11 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668062 | ATATAATA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0076a0001c0001t0103 | a0001c0001t0068g0231 a0001c0001t0076g0232 a0001c0001t0103g0223 |
3 | 412 | 0.0073 | -19 | c.*62 others(30): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1901 | chr19 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486771 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 |
a0001a0002 | a0001c0010a0002c0020 | a0001c0010t0002a0002c0020t0002 | a0001c0010t0002g0100 a0002c0020t0002g0092 |
2 | 122 | 0.0164 | -19 | c.453 others(36): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486780 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0096 |
2 | 122 | 0.0164 | -19 | c.453 others(36): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486782 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0034 | a0034c0036 | a0034c0036t0003 | a0034c0036t0003g0011 | 1 | 122 | 0.0082 | -19 | c.453 others(36): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486786 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03516.hp2 |
a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0062 a0013c0015t0001g0063 |
2 | 122 | 0.0164 | -19 | c.453 others(36): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486788 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0015 | 1 | 122 | 0.0082 | -19 | c.453 others(36): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51676579 | ACTCATCT others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0047 a0002c0002t0001g0039 a0002c0002t0001g0040 others(7): Show |
10 | 122 | 0.0820 | -19 | c.165 others(38): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51744960 | GAAAGAAA others(12): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01517.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(11): Show |
14 | 122 | 0.1148 | -19 | c.164 others(38): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703650 | GGGGGGCA others(12): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02056.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0005 | a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0016t0005g0001 |
3 | 322 | 0.0093 | -19 | c.201 others(38): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703777 | GGGAGGGC others(12): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02027.hp1 HG02040.hp1 others(6): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0052 a0001c0001t0002g0018 a0001c0001t0002g0061 others(6): Show |
9 | 322 | 0.0280 | -19 | c.201 others(38): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703821 | AGGGCAAC others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001a0007a0014 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0093 a0001c0001t0001g0172 a0001c0001t0001g0181 others(59): Show |
62 | 322 | 0.1926 | -19 | c.201 others(38): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58420087 | AAAAAGTT others(12): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 HG03540.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 others(1): Show |
4 | 300 | 0.0133 | -19 | c.152 others(38): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132693617 | TTGCCAGT others(12): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 350 | 0.0029 | -19 | c.237 others(36): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55548707 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG02015.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0099 a0001c0001t0002g0105 others(20): Show |
24 | 412 | 0.0583 | -19 | c.135 others(34): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
QARS1_chr3_49090932_49109757 | 49096798 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG03453.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0026 a0001c0003t0001g0038 |
3 | 284 | 0.0106 | -19 | c.227 others(36): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | |||||||
QDPR_chr4_17481395_17517090 | 17497502 | AATATAAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(59): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(1): Show | a0001c0003t0002g0044 a0001c0003t0002g0149 a0001c0003t0002g0150 others(42): Show |
62 | 406 | 0.1527 | -19 | c.436 others(36): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
QKI_chr6_163409718_163583592 | 163429586 | TAAAAGCC others(12): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0277 | 1 | 302 | 0.0033 | -19 | c.142 others(38): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37370347 | AAATACTA others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 442 | 0.0023 | -19 | c.823 others(34): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
QRFP_chr9_130887707_130901812 | 130897322 | CGCACCCC others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 428 | 0.0023 | -19 | c.-10 others(30): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 511 | chr9 | TogoVar | |||||||
QRFP_chr9_130887707_130901812 | 130897363 | ACCCCTGT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 428 | 0.0023 | -19 | c.-10 others(30): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 552 | chr9 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49096798 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG03453.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162 a0001c0001t0001g0210 a0001c0001t0002g0003 |
3 | 226 | 0.0133 | -19 | c.-29 others(30): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | |||||||
QRSL1_chr6_106624578_106673417 | 106650524 | TATTTTTG others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01106.hp2 others(45): Show |
a0001a0002a0006 | a0001c0005a0002c0003a0006c0013 | a0001c0005t0010a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0005t0010g0019 a0001c0005t0010g0296 a0002c0003t0001g0010 others(33): Show |
48 | 422 | 0.1137 | -19 | c.557 others(36): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 5/10 | chr6 | TogoVar | |||||||
QRSL1_chr6_106624578_106673417 | 106650525 | ATTTTTGA others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(271): Show |
337 | 422 | 0.7986 | -19 | c.557 others(36): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135532578 | TCTTCATG others(12): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0005 | a0006c0005t0006 | a0006c0005t0006g0065 | 1 | 232 | 0.0043 | -19 | c.-25 others(36): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895249 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0025 | a0025c0048 | a0025c0048t0018 | a0025c0048t0018g0195 | 1 | 264 | 0.0038 | -19 | c.371 others(36): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504007 | CCCCCTCA others(12): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 295 | 0.0034 | -19 | c.139 others(36): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31391392 | CGGGGACG others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0148 | 1 | 310 | 0.0032 | -19 | c.-46 others(28): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 282 | chr17 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445570 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 310 | 0.0032 | -19 | c.336 others(38): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8639144 | GTTCTTTT others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0090 | 1 | 404 | 0.0025 | -19 | c.*88 others(28): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 885 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04199.hp1 NA19067.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0009 a0001c0001t0029g0011 a0001c0001t0029g0015 |
3 | 404 | 0.0074 | -19 | c.*91 others(28): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 912 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB22A_chr20_58304715_58372507 | 58307483 | ACAGTGAT others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 394 | 0.0025 | -19 | c.-24 others(30): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 2231 | chr20 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55267362 | AAAGCAGA others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 others(3): Show |
6 | 320 | 0.0188 | -19 | c.-23 others(36): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB28_chr4_13362724_13489340 | 13448065 | ACTAGATA others(12): Show |
A | intron_variant | MODIFIER | NA18988.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0064 |
2 | 196 | 0.0102 | -19 | c.391 others(38): Show |
RAB28 | ENSG00000157869.16 | transcript | ENST00000288723.9 | protein_coding | 4/7 | chr4 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0105 others(23): Show |
26 | 358 | 0.0726 | -19 | c.119 others(36): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2B_chr14_21454020_21481959 | 21457628 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0040 others(38): Show |
77 | 412 | 0.1869 | -19 | c.*35 others(30): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 1391 | chr14 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9719283 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 322 | 0.0031 | -19 | c.39+ others(36): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719285 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 322 | 0.0031 | -19 | c.39+ others(36): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719289 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA18982.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0002g0162 |
3 | 322 | 0.0093 | -19 | c.39+ others(36): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9786150 | GAAAGAAG others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0038 others(43): Show |
46 | 322 | 0.1429 | -19 | c.120 others(36): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB36_chr22_23140477_23170663 | 23166448 | AAAGCAAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0007 | a0007c0015 | a0007c0015t0065 | a0007c0015t0065g0100 | 1 | 398 | 0.0025 | -19 | c.*48 others(30): Show |
RAB36 | ENSG00000100228.14 | transcript | ENST00000263116.8 | protein_coding | 786 | chr22 | TogoVar | |||||||
RAB39A_chr11_107923448_107968482 | 107935020 | TCTTCCCG others(12): Show |
T | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0062 | 1 | 406 | 0.0025 | -19 | c.227 others(36): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB39A_chr11_107923448_107968482 | 107946452 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0393 a0001c0001t0012g0394 |
2 | 406 | 0.0049 | -19 | c.228 others(38): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51912555 | ATATATAT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0062 | 1 | 62 | 0.0161 | -19 | c.*73 others(30): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7353 | chr1 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58596852 | ATAATATA others(12): Show |
A | intron_variant | MODIFIER | NA18959.hp1 NA18961.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022 | a0001c0001t0001g0088 a0001c0001t0004g0085 a0001c0001t0022g0087 |
3 | 220 | 0.0136 | -19 | c.24+ others(36): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |