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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QKI_chr6_163409718_163583592 | 163553062 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0026 | a0001c0001t0013g0124 a0001c0001t0018g0062 a0001c0001t0018g0161 others(1): Show |
4 | 302 | 0.0133 | -20 | c.547 others(37): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
QNG1_chr9_83933311_83961742 | 83934754 | GACACAGA others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 394 | 0.0025 | -20 | c.*47 others(31): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 3556 | chr9 | TogoVar | |||||||
QPRT_chr16_29674180_29703699 | 29701521 | TATCCTGT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0049 others(12): Show |
16 | 320 | 0.0500 | -20 | c.*41 others(31): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 2823 | chr16 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121365610 | TATTATAT others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0173 | 1 | 384 | 0.0026 | -20 | c.340 others(39): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76301872 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(159): Show |
a0002a0004a0005others(7): Show | a0002c0002a0002c0004a0002c0022others(25): Show | a0002c0002t0001a0002c0004t0001a0002c0022t0001others(25): Show | a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0235 others(154): Show |
162 | 364 | 0.4451 | -20 | c.705 others(37): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
QTRT2_chr3_114051737_114093422 | 114060496 | GTAGATAG others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(72): Show |
105 | 430 | 0.2442 | -20 | c.-22 others(37): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
QTRT2_chr3_114051737_114093422 | 114082204 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0157 a0001c0001t0013g0088 a0001c0001t0013g0089 |
3 | 430 | 0.0070 | -20 | c.899 others(35): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135535499 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 232 | 0.0043 | -20 | c.-25 others(39): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135537608 | CTTATTTT others(13): Show |
C | intron_variant | MODIFIER | HG02165.hp2 HG02922.hp1 NA18969.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0072 a0003c0003t0001g0201 a0003c0003t0001g0202 |
3 | 232 | 0.0129 | -20 | c.-25 others(39): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135698980 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 232 | 0.0043 | -20 | c.246 others(41): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44348482 | CTCCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(19): Show |
a0001a0002a0003 | a0001c0007a0002c0003a0002c0005others(1): Show | a0001c0007t0002a0002c0003t0002a0002c0003t0003others(2): Show | a0001c0007t0002g0083 a0002c0003t0002g0008 a0002c0003t0002g0176 others(12): Show |
22 | 434 | 0.0507 | -20 | c.630 others(37): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44349146 | TAAATAAA others(13): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 434 | 0.0023 | -20 | c.630 others(37): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26092261 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00741.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(42): Show |
45 | 212 | 0.2123 | -20 | c.128 others(37): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37892425 | ATATTTAT others(13): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 264 | 0.0038 | -20 | c.371 others(37): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP1_chr8_37853618_37904497 | 37895218 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02630.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0085 a0003c0004t0001g0036 |
2 | 264 | 0.0076 | -20 | c.371 others(37): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP2_chr10_117999916_118051941 | 118024470 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0024others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0089 a0001c0001t0015g0025 others(5): Show |
11 | 400 | 0.0275 | -20 | c.126 others(39): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 3/4 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 503957 | TCCTCCTG others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(226): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0073 others(225): Show |
229 | 295 | 0.7763 | -20 | c.139 others(37): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 503996 | CACCTCCT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(40): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0283 a0001c0001t0002g0002 a0001c0001t0002g0005 others(40): Show |
43 | 295 | 0.1458 | -20 | c.139 others(37): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504672 | ACCTCCTG others(13): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0012 | a0001c0012t0059 | a0001c0012t0059g0107 | 1 | 295 | 0.0034 | -20 | c.139 others(37): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504684 | CCCTCACC others(13): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02572.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0200 a0001c0001t0001g0251 a0001c0001t0015g0136 |
3 | 295 | 0.0102 | -20 | c.139 others(37): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504699 | GTACCGCC others(13): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0017 | a0001c0017t0039 | a0001c0017t0039g0112 | 1 | 295 | 0.0034 | -20 | c.139 others(37): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31505499 | TTATATTA others(13): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0281 | 1 | 310 | 0.0032 | -20 | c.337 others(39): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8622694 | CGGTCTGA others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0067 | a0001c0001t0065g0054 a0001c0001t0067g0054 |
2 | 404 | 0.0050 | -20 | c.515 others(37): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02040.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0004 a0001c0001t0028g0009 a0001c0001t0028g0236 |
3 | 404 | 0.0074 | -20 | c.*91 others(29): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 911 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB17_chr2_237569326_237595734 | 237578900 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | NA18972.hp1 NA18988.hp2 NA19055.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0005c0007t0003 | a0001c0001t0003g0124 a0005c0007t0003g0042 |
3 | 424 | 0.0071 | -20 | c.158 others(35): Show |
RAB17 | ENSG00000124839.13 | transcript | ENST00000264601.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110519253 | TGTGCAGG others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0171 |
3 | 426 | 0.0070 | -20 | c.*43 others(31): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 3812 | chr13 | TogoVar | |||||||
RAB22A_chr20_58304715_58372507 | 58309453 | GCAGGGGC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(80): Show |
90 | 394 | 0.2284 | -20 | c.-52 others(29): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 261 | chr20 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54873685 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG03492.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 2 | 334 | 0.0060 | -20 | c.-19 others(37): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB28_chr4_13362724_13489340 | 13375784 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 196 | 0.0051 | -20 | c.573 others(35): Show |
RAB28 | ENSG00000157869.16 | transcript | ENST00000288723.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
RAB29_chr1_205762986_205780482 | 205764928 | ACAGTGTC others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02273.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 414 | 0.0048 | -20 | c.*53 others(31): Show |
RAB29 | ENSG00000117280.13 | transcript | ENST00000367139.8 | protein_coding | 3057 | chr1 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60526020 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0341 a0001c0001t0005g0281 |
2 | 358 | 0.0056 | -20 | c.46+ others(35): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0254 a0001c0001t0002g0029 a0001c0001t0002g0081 others(33): Show |
36 | 358 | 0.1006 | -20 | c.119 others(37): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60585282 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 358 | 0.0028 | -20 | c.362 others(35): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2B_chr14_21454020_21481959 | 21454162 | AAAAAGAA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp2 HG01517.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0002g0003 a0001c0001t0007g0053 a0001c0001t0007g0145 others(9): Show |
15 | 412 | 0.0364 | -20 | c.*70 others(31): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 4857 | chr14 | TogoVar | |||||||
RAB2B_chr14_21454020_21481959 | 21457628 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 HG03041.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 3 | 412 | 0.0073 | -20 | c.*35 others(31): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 1391 | chr14 | TogoVar | |||||||
RAB30_chr11_82968133_83076897 | 83014634 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG03017.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0039 others(7): Show |
11 | 328 | 0.0335 | -20 | c.-8- others(37): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9719286 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0168 a0001c0001t0006g0174 |
2 | 322 | 0.0062 | -20 | c.39+ others(37): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719288 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0185 a0001c0001t0002g0002 others(5): Show |
8 | 322 | 0.0248 | -20 | c.39+ others(37): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719290 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 a0001c0001t0009g0004 |
2 | 322 | 0.0062 | -20 | c.39+ others(37): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719314 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0144 | 1 | 322 | 0.0031 | -20 | c.39+ others(37): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9844832 | AGTTTTGT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(206): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 others(206): Show |
209 | 322 | 0.6491 | -20 | c.381 others(35): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB33A_chrX_130166962_130189870 | 130187430 | TTTCCTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 316 | 0.0032 | -20 | c.*26 others(31): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 2561 | chrX | TogoVar | |||||||
RAB36_chr22_23140477_23170663 | 23164776 | CACCTGTC others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0006 | 1 | 398 | 0.0025 | -20 | c.*32 others(31): Show |
RAB36 | ENSG00000100228.14 | transcript | ENST00000263116.8 | protein_coding | 11/11 | 3215 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAB39A_chr11_107923448_107968482 | 107946420 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01243.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 others(23): Show |
26 | 406 | 0.0640 | -20 | c.228 others(39): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB39A_chr11_107923448_107968482 | 107946422 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 NA18950.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(12): Show |
15 | 406 | 0.0370 | -20 | c.228 others(39): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58612528 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0192 | 1 | 220 | 0.0046 | -20 | c.25- others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58737394 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0051 | a0001c0001t0002g0108 a0001c0001t0051g0128 |
2 | 220 | 0.0091 | -20 | c.371 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58797352 | AAATATGT others(13): Show |
A | intron_variant | MODIFIER | NA18968.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0055 | a0001c0001t0001g0018 a0001c0001t0055g0194 |
2 | 220 | 0.0091 | -20 | c.372 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58813617 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0219 | 1 | 220 | 0.0046 | -20 | c.372 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135078672 | CCCCTCCC others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03516.hp1 HG03579.hp1 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0002a0003c0006t0009 | a0003c0006t0002g0248 a0003c0006t0009g0249 a0003c0006t0009g0250 others(1): Show |
4 | 280 | 0.0143 | -20 | c.151 others(39): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |