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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RC3H1_chr1_173926084_174027357 | 173950420 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0006a0001c0001t0054a0001c0001t0055others(6): Show | a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 others(12): Show |
15 | 191 | 0.0785 | 7 | c.252 others(26): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122859252 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00741.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0153 a0001c0001t0001g0155 others(12): Show |
16 | 28 | 0.5714 | 7 | c.185 others(24): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 11/20 | chr9 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122866379 | C | CTCCCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(276): Show |
291 | 309 | 0.9417 | 7 | c.132 others(24): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RCAN1_chr21_34511442_34620113 | 34530616 | G | GTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG02083.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0086 a0001c0001t0003g0031 a0001c0001t0003g0050 others(5): Show |
8 | 161 | 0.0497 | 7 | c.253 others(24): Show |
RCAN1 | ENSG00000159200.18 | transcript | ENST00000313806.9 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
RCAN3_chr1_24497836_24546040 | 24523054 | G | GTATGTAC | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0012a0001c0001t0017a0001c0001t0033others(11): Show | a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0012g0042 others(17): Show |
20 | 330 | 0.0606 | 7 | c.196 others(24): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCAN3_chr1_24497836_24546040 | 24530356 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG02083.hp1 HG02129.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0004g0008 a0001c0001t0004g0154 a0001c0001t0011g0011 others(6): Show |
12 | 97 | 0.1237 | 7 | c.196 others(22): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCAN3_chr1_24497836_24546040 | 24538571 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018 | a0001c0001t0007g0006 a0001c0001t0007g0013 a0001c0001t0007g0034 others(6): Show |
10 | 135 | 0.0741 | 7 | c.*33 others(18): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 5/5 | 3315 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCBTB1_chr13_49526946_49590558 | 49548882 | G | GCTCACGC | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01070.hp2 others(121): Show |
a0002a0004 | a0002c0002a0002c0006a0002c0007others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0055 a0002c0002t0001g0176 a0002c0002t0002g0004 others(117): Show |
124 | 415 | 0.2988 | 7 | c.104 others(24): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 9/12 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493262 | C | CACACACA | intron_variant | MODIFIER | HG01168.hp1 HG01361.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0046 others(2): Show |
5 | 302 | 0.0166 | 7 | c.151 others(26): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90954458 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0004t0001others(5): Show | a0001c0001t0001g0021 a0001c0001t0021g0023 a0001c0004t0001g0001 others(11): Show |
35 | 106 | 0.3302 | 7 | c.-61 others(16): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 425 | chr15 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75487630 | A | ATATATTC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0046 others(81): Show |
104 | 388 | 0.2680 | 7 | c.657 others(24): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RCL1_chr9_4787944_4866066 | 4851885 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(129): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 others(126): Show |
132 | 163 | 0.8098 | 7 | c.971 others(24): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCL1_chr9_4787944_4866066 | 4857931 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01192.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0214 a0001c0001t0001g0306 a0001c0001t0001g0307 others(28): Show |
31 | 75 | 0.4133 | 7 | c.972 others(24): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCN2_chr15_76926749_76959393 | 76953593 | A | ATATATAT | 3_prime_UTR_variant | MODIFIER | HG01071.hp1 HG01346.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0074others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0008g0017 others(3): Show |
6 | 191 | 0.0314 | 7 | c.*43 others(18): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4373 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RCOR1_chr14_102587649_102735561 | 102632792 | C | CTCTCTCG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0019others(4): Show | a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0260 others(24): Show |
27 | 289 | 0.0934 | 7 | c.361 others(26): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102706114 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG00735.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0181 a0001c0001t0002g0198 a0001c0001t0002g0204 others(17): Show |
20 | 89 | 0.2247 | 7 | c.499 others(24): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR3_chr1_211254366_211321385 | 211261923 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG01261.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0032 others(30): Show |
35 | 71 | 0.4930 | 7 | c.223 others(24): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCOR3_chr1_211254366_211321385 | 211261931 | A | AAAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0003 a0001c0001t0003g0229 a0001c0001t0003g0230 others(11): Show |
17 | 320 | 0.0531 | 7 | c.223 others(24): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCOR3_chr1_211254366_211321385 | 211272612 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG02523.hp1 HG02738.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0001 | a0001c0001t0002g0013 a0001c0001t0002g0029 a0001c0001t0002g0072 others(12): Show |
16 | 65 | 0.2462 | 7 | c.301 others(24): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(25): Show |
28 | 43 | 0.6512 | 7 | c.6+3 others(18): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167701317 | T | TTTCTTTC | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(1): Show | a0001c0001t0001g0216 a0001c0001t0008g0329 a0001c0001t0020g0301 others(1): Show |
4 | 339 | 0.0118 | 7 | c.121 others(26): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RD3L_chr14_103935426_103947529 | 103938432 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 10 | 298 | 0.0336 | 7 | c.*23 others(18): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 1993 | chr14 | TogoVar | |||||||
RD3L_chr14_103935426_103947529 | 103939741 | G | GTGTTTTT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(1): Show | a0001c0001t0001g0006 a0001c0001t0004g0007 a0001c0005t0004g0010 others(1): Show |
9 | 414 | 0.0217 | 7 | c.*10 others(18): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 684 | chr14 | TogoVar | |||||||
RD3_chr1_211471522_211497162 | 211495290 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01167.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0144 others(18): Show |
32 | 264 | 0.1212 | 7 | c.-35 others(18): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 3129 | chr1 | TogoVar | |||||||
RDH13_chr19_55039316_55068148 | 55051537 | T | TCTGCTGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0238 a0001c0001t0003g0006 a0001c0001t0003g0172 others(185): Show |
262 | 376 | 0.6968 | 7 | c.341 others(24): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
RDH13_chr19_55039316_55068148 | 55063061 | A | AGGCGTCC | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0004g0189 others(156): Show |
207 | 239 | 0.8661 | 7 | c.-30 others(14): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1/7 | 30 | chr19 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01175.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0039 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(9): Show |
12 | 104 | 0.1154 | 7 | c.-65 others(24): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73539282 | A | ATTTTTTT | intron_variant | MODIFIER | HG03453.hp1 HG04184.hp1 NA18949.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0003 a0001c0001t0002g0122 a0001c0001t0002g0132 others(3): Show |
6 | 50 | 0.1200 | 7 | c.250 others(24): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36104327 | T | TATATATA | intron_variant | MODIFIER | HG02717.hp1 HG03540.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0167 others(1): Show |
4 | 311 | 0.0129 | 7 | c.143 others(24): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | chr9 | TogoVar | |||||||
RECQL4_chr8_144506288_144522833 | 144513791 | C | CGTGGGCG | intron_variant | MODIFIER | HG00423.hp1 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0080 a0002c0002t0001g0203 a0003c0003t0001g0061 others(3): Show |
7 | 339 | 0.0206 | 7 | c.205 others(22): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86252484 | A | AAGTACTT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(17): Show | a0001c0001t0005g0001 a0001c0001t0005g0023 a0001c0001t0005g0027 others(125): Show |
130 | 318 | 0.4088 | 7 | c.304 others(22): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
REEP3_chr10_63516401_63630128 | 63589785 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01928.hp2 HG01952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0047a0001c0001t0049others(1): Show | a0001c0001t0007g0210 a0001c0001t0007g0220 a0001c0001t0007g0225 others(4): Show |
7 | 107 | 0.0654 | 7 | c.106 others(24): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63617812 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02015.hp1 NA18946.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0015 | a0001c0001t0004g0006 a0001c0001t0004g0042 a0001c0001t0004g0237 others(10): Show |
14 | 119 | 0.1176 | 7 | c.566 others(24): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP5_chr5_112871385_112927227 | 112895237 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(76): Show |
87 | 105 | 0.8286 | 7 | c.351 others(24): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37605848 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0040a0001c0001t0051 | a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 others(6): Show |
9 | 311 | 0.0289 | 7 | c.*74 others(18): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4785 | chr4 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37673186 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(77): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0108 others(76): Show |
80 | 111 | 0.7207 | 7 | c.88+ others(24): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103519586 | A | ATTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
a0001a0017 | a0001c0005a0017c0034 | a0001c0005t0001a0001c0005t0007a0017c0034t0001 | a0001c0005t0001g0037 a0001c0005t0001g0144 a0001c0005t0001g0145 others(2): Show |
5 | 57 | 0.0877 | 7 | c.766 others(22): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 48/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103566964 | G | GAAGGAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(141): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0003others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(95): Show | a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0084 others(141): Show |
144 | 182 | 0.7912 | 7 | c.458 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 31/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103862409 | T | TTCATCTA | intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG02165.hp1 others(8): Show |
a0001a0007a0010others(2): Show | a0001c0004a0001c0007a0001c0008others(6): Show | a0001c0004t0001a0001c0004t0003a0001c0007t0001others(7): Show | a0001c0004t0001g0092 a0001c0004t0001g0137 a0001c0004t0003g0166 others(8): Show |
11 | 87 | 0.1264 | 7 | c.338 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103904975 | C | CTTTTTTT | intron_variant | MODIFIER | HG02293.hp1 HG02293.hp2 HG02523.hp2 others(19): Show |
a0001a0005a0027others(1): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0011others(14): Show | a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0099 others(19): Show |
22 | 32 | 0.6875 | 7 | c.337 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103909814 | T | TAATATTA | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 NA18941.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0009a0002c0015others(3): Show | a0001c0002t0001a0002c0009t0001a0002c0015t0001others(3): Show | a0001c0002t0001g0083 a0002c0009t0001g0056 a0002c0009t0001g0057 others(4): Show |
7 | 123 | 0.0569 | 7 | c.337 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103926099 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG02615.hp2 others(7): Show |
a0001a0023a0025others(1): Show | a0001c0001a0001c0005a0001c0019others(6): Show | a0001c0001t0002a0001c0005t0002a0001c0019t0001others(7): Show | a0001c0001t0002g0031 a0001c0005t0002g0006 a0001c0019t0001g0069 others(7): Show |
10 | 45 | 0.2222 | 7 | c.227 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103963134 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01106.hp2 others(35): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(29): Show | a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0004g0160 others(35): Show |
38 | 99 | 0.3838 | 7 | c.226 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
REL_chr2_60876574_60936612 | 60906913 | A | ATATATAT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG03017.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0059 | a0001c0001t0003g0014 a0001c0001t0003g0184 a0001c0001t0003g0202 others(3): Show |
8 | 146 | 0.0548 | 7 | c.394 others(24): Show |
REL | ENSG00000162924.16 | transcript | ENST00000394479.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
REL_chr2_60876574_60936612 | 60906914 | T | TATATATA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01261.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0066 a0001c0001t0003g0008 a0001c0001t0003g0025 others(12): Show |
19 | 247 | 0.0769 | 7 | c.394 others(24): Show |
REL | ENSG00000162924.16 | transcript | ENST00000394479.4 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31472439 | A | AGGGAGAG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0003a0006c0012others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(7): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(27): Show |
79 | 338 | 0.2337 | 7 | c.-31 others(18): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 2848 | chr20 | TogoVar | |||||||
REN_chr1_204149819_204171337 | 204164565 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01109.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show |
31 | 166 | 0.1867 | 7 | c.98+ others(22): Show |
REN | ENSG00000143839.15 | transcript | ENST00000272190.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138935853 | T | TGGCGGGG | intron_variant | MODIFIER | NA18979.hp1 NA18981.hp2 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 a0001c0002t0003g0337 |
3 | 387 | 0.0078 | 7 | c.113 others(26): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 8/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138955457 | A | AAGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01099.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0004 | a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0183 others(9): Show |
12 | 72 | 0.1667 | 7 | c.154 others(24): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969859 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(24): Show |
27 | 98 | 0.2755 | 7 | c.153 others(26): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar |