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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0180 a0001c0001t0001g0232 a0001c0001t0002g0305 others(3): Show |
6 | 11 | 0.5455 | 34 | c.*22 others(45): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105509184 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0344 | 1 | 8 | 0.1250 | 34 | c.-32 others(49): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132415719 | A | ACACACCC others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0009a0003c0020 | a0001c0009t0001a0003c0020t0001 | a0001c0009t0001g0021 a0001c0009t0001g0071 a0001c0009t0001g0121 others(1): Show |
5 | 370 | 0.0135 | 34 | c.*17 others(51): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 | 2 | 209 | 0.0096 | 34 | c.113 others(51): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248719 | G | GTATATAC others(27): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 others(7): Show |
10 | 241 | 0.0415 | 34 | c.-53 others(53): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYDC2_chr3_191456163_191466456 | 191463020 | C | CTTTCTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 104 | 0.0192 | 34 | c.*15 others(45): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55576760 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0034others(3): Show | a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0116 others(6): Show |
9 | 75 | 0.1200 | 34 | c.49+ others(51): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18997.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0231 a0001c0001t0001g0232 |
3 | 190 | 0.0158 | 34 | c.120 others(51): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121323977 | C | CATATATA others(27): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0338 | 1 | 349 | 0.0029 | 34 | c.*53 others(45): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 4664 | chr4 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(27): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 53 | 0.0189 | 34 | c.340 others(48): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QSER1_chr11_32887811_32985270 | 32973241 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 233 | 0.0043 | 34 | c.520 others(50): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
R3HCC1_chr8_23283108_23301279 | 23292281 | C | CGGGGGGG others(27): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 470 | 0.0021 | 34 | c.102 others(51): Show |
R3HCC1 | ENSG00000104679.12 | transcript | ENST00000265806.12 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57348693 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 272 | 0.0037 | 34 | c.-35 others(53): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26114737 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 165 | 0.0061 | 34 | c.327 others(51): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504394 | C | CCCCCTCA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0110 a0001c0001t0011g0263 a0001c0001t0011g0264 |
3 | 283 | 0.0106 | 34 | c.139 others(53): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27546498 | A | ATTTTTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0088 | 1 | 9 | 0.1111 | 34 | c.*84 others(45): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 4260 | chr10 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65105511 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 159 | 0.0063 | 34 | c.24- others(47): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55210193 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0015others(2): Show | a0001c0001t0010g0006 a0001c0001t0010g0139 a0001c0001t0010g0155 others(9): Show |
12 | 226 | 0.0531 | 34 | c.468 others(51): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GACATATA others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01123.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0178 others(4): Show |
7 | 41 | 0.1707 | 34 | c.-20 others(53): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 35 | 0.0286 | 34 | c.-20 others(53): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850357 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0111 | 1 | 314 | 0.0032 | 34 | c.-20 others(53): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60590585 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 356 | 0.0028 | 34 | c.363 others(51): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60605832 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0289 | 1 | 186 | 0.0054 | 34 | c.475 others(53): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9851918 | C | CATATTTC others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0249 | 1 | 320 | 0.0031 | 34 | c.490 others(51): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB35_chr12_120090099_120121753 | 120110290 | A | AATTTTTT others(27): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0299 | 1 | 30 | 0.0333 | 34 | c.53- others(49): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
RAB35_chr12_120090099_120121753 | 120110290 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18612.hp2 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0043 a0001c0001t0004g0297 a0001c0001t0004g0298 others(4): Show |
8 | 37 | 0.2162 | 34 | c.53- others(49): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51995019 | C | CAGGTGGT others(27): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0040 | 1 | 60 | 0.0167 | 34 | c.-44 others(45): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4320 | chr1 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58598255 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 178 | 0.0056 | 34 | c.24+ others(51): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693322 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0175 | 1 | 213 | 0.0047 | 34 | c.253 others(53): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693336 | G | GTATGTGT others(27): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0042 | 1 | 112 | 0.0089 | 34 | c.253 others(53): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693345 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0126 a0001c0001t0006g0041 |
2 | 217 | 0.0092 | 34 | c.253 others(53): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 a0001c0001t0006g0102 a0001c0001t0006g0103 |
3 | 123 | 0.0244 | 34 | c.497 others(51): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 121 | 0.0083 | 34 | c.497 others(51): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0100 | 1 | 121 | 0.0083 | 34 | c.497 others(51): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82679755 | G | GCAGCCTC others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(232): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(223): Show |
235 | 335 | 0.7015 | 34 | c.143 others(53): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40C_chr16_585066_634268 | 612076 | A | AAGGGACA others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01346.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0117 |
3 | 341 | 0.0088 | 34 | c.143 others(51): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 612496 | C | CGCCTTTG others(27): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0038 | 1 | 347 | 0.0029 | 34 | c.143 others(51): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(27): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0115 | 1 | 188 | 0.0053 | 34 | c.*37 others(45): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACACACA others(27): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02040.hp1 HG03492.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0214 others(5): Show |
10 | 109 | 0.0917 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(27): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 100 | 0.0100 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0144 |
2 | 101 | 0.0198 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(27): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 100 | 0.0100 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(27): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 101 | 0.0198 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(27): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02132.hp2 HG02300.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0236 others(2): Show |
11 | 110 | 0.1000 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACTTACA others(27): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 100 | 0.0100 | 34 | c.219 others(49): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73739304 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02523.hp2 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0133 others(2): Show |
5 | 208 | 0.0240 | 34 | c.71- others(49): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 3 | 0.3333 | 34 | c.53+ others(47): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128809936 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0192 a0001c0001t0005g0144 |
2 | 41 | 0.0488 | 34 | c.528 others(51): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATAGA others(27): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0238 | 1 | 36 | 0.0278 | 34 | c.-47 others(45): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 | 1 | 36 | 0.0278 | 34 | c.-47 others(45): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar |