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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RCBTB2_chr13_48483963_48538080 | 48493311 | ACACACTC others(1): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0059 a0001c0005t0002g0060 a0001c0005t0002g0061 others(1): Show |
4 | 320 | 0.0125 | -8 | c.151 others(27): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48525373 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00738.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0027 others(39): Show |
44 | 320 | 0.1375 | -8 | c.-21 others(25): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75072161 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0114 others(4): Show |
9 | 270 | 0.0333 | -8 | c.324 others(25): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28503465 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00741.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0012others(2): Show | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 others(11): Show |
14 | 294 | 0.0476 | -8 | c.-28 others(19): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 2577 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28515114 | CCAAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 others(2): Show |
5 | 294 | 0.0170 | -8 | c.-15 others(27): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCCD1_chr15_90949884_90968125 | 90964822 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01071.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0035 others(26): Show |
42 | 432 | 0.0972 | -8 | c.*30 others(19): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 1698 | chr15 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90965274 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(37): Show |
122 | 432 | 0.2824 | -8 | c.*35 others(19): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 2150 | chr15 | TogoVar | |||||||
RCE1_chr11_66838441_66851552 | 66847846 | TGTGGGCA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 5 | 412 | 0.0121 | -8 | c.*17 others(19): Show |
RCE1 | ENSG00000173653.8 | transcript | ENST00000309657.8 | protein_coding | 1295 | chr11 | TogoVar | |||||||
RCL1_chr9_4787944_4866066 | 4806587 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG04228.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0175 others(4): Show |
7 | 386 | 0.0181 | -8 | c.136 others(27): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCN2_chr15_76926749_76959393 | 76939231 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0005 a0001c0001t0001g0122 a0001c0001t0001g0148 others(50): Show |
57 | 422 | 0.1351 | -8 | c.447 others(25): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102616206 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0212 a0001c0001t0006g0256 a0001c0001t0006g0257 others(3): Show |
6 | 292 | 0.0206 | -8 | c.361 others(27): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102623387 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0020a0001c0001t0049others(1): Show | a0001c0001t0004g0185 a0001c0001t0020g0289 a0001c0001t0020g0290 others(2): Show |
5 | 292 | 0.0171 | -8 | c.361 others(27): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102639497 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0082 others(27): Show |
30 | 292 | 0.1027 | -8 | c.362 others(27): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653920 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG01884.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0111 a0001c0001t0002g0205 a0001c0001t0002g0237 others(11): Show |
14 | 292 | 0.0480 | -8 | c.362 others(27): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102692440 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0017a0001c0001t0038others(2): Show | a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0012g0154 others(5): Show |
8 | 292 | 0.0274 | -8 | c.446 others(25): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102692710 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG02148.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0029 a0001c0001t0003g0006 a0001c0001t0003g0046 others(5): Show |
8 | 292 | 0.0274 | -8 | c.446 others(25): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR3_chr1_211254366_211321385 | 211284520 | TTATTTAT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01070.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0258 others(78): Show |
84 | 324 | 0.2593 | -8 | c.721 others(25): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167630721 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp2 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 others(5): Show |
8 | 350 | 0.0229 | -8 | c.6+3 others(19): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167644488 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(181): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(178): Show |
184 | 350 | 0.5257 | -8 | c.6+1 others(23): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167701252 | GTTTCTTT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02165.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0222 a0001c0001t0001g0229 others(12): Show |
16 | 350 | 0.0457 | -8 | c.121 others(27): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167702786 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0001g0221 a0001c0001t0001g0302 a0001c0001t0006g0098 others(14): Show |
17 | 350 | 0.0486 | -8 | c.121 others(27): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RD3L_chr14_103935426_103947529 | 103938382 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG01109.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 25 | 440 | 0.0568 | -8 | c.*24 others(19): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 2043 | chr14 | TogoVar | |||||||
RD3L_chr14_103935426_103947529 | 103939632 | GGTACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(149): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0004g0007 others(4): Show |
152 | 440 | 0.3455 | -8 | c.*11 others(19): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 793 | chr14 | TogoVar | |||||||
RD3_chr1_211471522_211497162 | 211480651 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0087 a0001c0001t0020g0128 a0001c0001t0020g0135 others(1): Show |
4 | 416 | 0.0096 | -8 | c.296 others(23): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
RD3_chr1_211471522_211497162 | 211492048 | GGTGTGTG others(1): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01070.hp1 others(93): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0015 others(40): Show |
96 | 416 | 0.2308 | -8 | c.-30 others(17): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 1/3 | 10634 | chr1 | TogoVar | ||||||
RDH10_chr8_73289602_73330281 | 73325952 | GGTGTGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0002g0009 others(8): Show |
12 | 396 | 0.0303 | -8 | c.*29 others(19): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 672 | chr8 | TogoVar | |||||||
RDH12_chr14_67696886_67739451 | 67721738 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(123): Show |
171 | 434 | 0.3940 | -8 | c.-21 others(25): Show |
RDH12 | ENSG00000139988.10 | transcript | ENST00000551171.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55066496 | TCTCTCTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG03041.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0001 | a0001c0001t0006g0159 a0001c0001t0009g0183 a0001c0002t0001g0028 others(1): Show |
4 | 377 | 0.0106 | -8 | c.-34 others(19): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 3349 | chr19 | TogoVar | |||||||
RDH8_chr19_10008483_10027279 | 10009161 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01168.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0008t0001others(4): Show | a0001c0002t0001g0053 a0001c0003t0001g0127 a0001c0003t0001g0131 others(14): Show |
24 | 464 | 0.0517 | -8 | c.-43 others(19): Show |
RDH8 | ENSG00000080511.5 | transcript | ENST00000591589.3 | protein_coding | 4321 | chr19 | TogoVar | |||||||
RDH8_chr19_10008483_10027279 | 10016124 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02735.hp2 HG03491.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003 | a0001c0003t0001g0153 a0001c0003t0002g0156 a0001c0003t0003g0035 others(3): Show |
8 | 464 | 0.0172 | -8 | c.104 others(23): Show |
RDH8 | ENSG00000080511.5 | transcript | ENST00000591589.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110230579 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 NA18942.hp2 NA19012.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0015 | a0001c0001t0015g0133 a0001c0001t0015g0134 a0001c0003t0015g0118 |
3 | 376 | 0.0080 | -8 | c.*12 others(19): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 14/14 | 1282 | chr11 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110267515 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0116 a0001c0001t0001g0117 others(18): Show |
23 | 376 | 0.0612 | -8 | c.97- others(23): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 3/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73447648 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0002g0118 a0001c0001t0002g0119 |
3 | 188 | 0.0160 | -8 | c.159 others(25): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36042423 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0203 a0001c0001t0001g0305 others(6): Show |
9 | 392 | 0.0230 | -8 | c.100 others(25): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36048126 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02818.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0187 a0001c0001t0001g0302 a0001c0001t0001g0345 others(4): Show |
7 | 392 | 0.0179 | -8 | c.101 others(25): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36058659 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0003c0006t0001a0003c0006t0003 | a0001c0001t0004g0297 a0003c0006t0001g0387 a0003c0006t0003g0388 others(2): Show |
5 | 392 | 0.0128 | -8 | c.160 others(23): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36073233 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01891.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0003g0041 others(21): Show |
24 | 392 | 0.0612 | -8 | c.406 others(25): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36082152 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 HG02922.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0004a0006c0012t0004 | a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 others(1): Show |
4 | 392 | 0.0102 | -8 | c.440 others(25): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36089967 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02040.hp2 HG02280.hp2 others(46): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0226 a0001c0001t0001g0281 a0001c0001t0001g0282 others(46): Show |
49 | 392 | 0.1250 | -8 | c.906 others(25): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36092542 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG04199.hp1 NA18963.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0312 others(6): Show |
9 | 392 | 0.0230 | -8 | c.108 others(27): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146214484 | GTGTGTGT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 NA18947.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0003a0005c0005t0001a0005c0005t0004 | a0002c0002t0003g0016 a0005c0005t0001g0029 a0005c0005t0001g0049 others(2): Show |
6 | 434 | 0.0138 | -8 | c.-34 others(17): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 53 | chr4 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86239208 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01069.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 others(24): Show |
27 | 320 | 0.0844 | -8 | c.418 others(25): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86270170 | CTTTTGTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(20): Show | a0001c0001t0006g0158 a0001c0001t0007g0005 a0001c0001t0007g0006 others(114): Show |
118 | 320 | 0.3688 | -8 | c.106 others(25): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86270171 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0152 a0001c0001t0003g0072 a0001c0001t0003g0073 others(84): Show |
88 | 320 | 0.2750 | -8 | c.106 others(25): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86276778 | AGGTCCGT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02809.hp2 others(10): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0006a0001c0002t0020others(2): Show | a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 others(10): Show |
13 | 320 | 0.0406 | -8 | c.105 others(25): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86293093 | CATTCATT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02572.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0006a0001c0001t0018a0001c0001t0020others(2): Show | a0001c0001t0006g0158 a0001c0001t0018g0156 a0001c0001t0020g0157 others(3): Show |
6 | 320 | 0.0188 | -8 | c.33- others(25): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86332436 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0006a0001c0001t0011a0001c0001t0018others(3): Show | a0001c0001t0006g0158 a0001c0001t0011g0120 a0001c0001t0011g0121 others(7): Show |
10 | 320 | 0.0313 | -8 | c.32+ others(23): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
REEP5_chr5_112871385_112927227 | 112877981 | CTGTGTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0028a0001c0001t0030others(4): Show | a0001c0001t0022g0127 a0001c0001t0022g0129 a0001c0001t0028g0291 others(8): Show |
11 | 340 | 0.0324 | -8 | c.*79 others(17): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 5/5 | 797 | chr5 | TogoVar | ||||||
REEP5_chr5_112871385_112927227 | 112878050 | GTAACTAA others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG02717.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0048a0002c0002t0025a0002c0002t0047 | a0001c0001t0048g0316 a0002c0002t0025g0222 a0002c0002t0025g0223 others(1): Show |
4 | 340 | 0.0118 | -8 | c.*72 others(17): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 5/5 | 728 | chr5 | TogoVar | ||||||
REEP5_chr5_112871385_112927227 | 112893939 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0017others(10): Show | a0001c0001t0005g0001 a0001c0001t0005g0010 a0001c0001t0005g0256 others(32): Show |
43 | 340 | 0.1265 | -8 | c.352 others(25): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar |