| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RCOR1_chr14_102587649_102735561 | 102632665 | TTTCCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00609.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0082a0001c0001t0001g0085others(6): Show | 9 | 292 | 0.0308 | -9 | c.361 others(28): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RCOR1_chr14_102587649_102735561 | 102653974 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0162a0001c0001t0002g0200a0001c0001t0002g0221others(5): Show | 8 | 292 | 0.0274 | -9 | c.362 others(28): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
| RCOR3_chr1_211254366_211321385 | 211308664 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0021a0001c0001t0004g0015a0001c0001t0004g0261others(5): Show | 9 | 324 | 0.0278 | -9 | c.107 others(28): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RCSD1_chr1_167625232_167713696 | 167630721 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0328a0001c0001t0005g0332a0001c0001t0008g0329others(3): Show | 6 | 350 | 0.0171 | -9 | c.6+3 others(20): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RCSD1_chr1_167625232_167713696 | 167705050 | CAGCTAAT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(76): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0007others(76): Show | 79 | 350 | 0.2257 | -9 | c.*35 others(18): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 7/7 | 359 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| RDX_chr11_110224441_110301614 | 110299073 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(114): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0250a0001c0001t0001g0252a0001c0001t0001g0253others(113): Show | 117 | 376 | 0.3112 | -9 | c.-26 others(20): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 2460 | chr11 | TogoVar | ||||||
| RECK_chr9_36031913_36129455 | 36092542 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02280.hp2 HG02559.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0226a0001c0001t0001g0281a0001c0001t0001g0282others(41): Show | 44 | 392 | 0.1122 | -9 | c.108 others(28): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RECK_chr9_36031913_36129455 | 36099224 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0193a0001c0001t0001g0203a0001c0001t0001g0204others(23): Show | 26 | 392 | 0.0663 | -9 | c.108 others(28): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| REELD1_chr4_146209538_146237267 | 146227169 | CTATAACA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(12): Show |
a0002a0007a0009 | a0002c0002a0007c0009a0009c0010 | a0002c0002t0010a0007c0009t0010a0007c0009t0014others(5): Show | a0002c0002t0010g0065a0007c0009t0010g0017a0007c0009t0010g0067others(7): Show | 15 | 434 | 0.0346 | -9 | c.596 others(26): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 5/7 | chr4 | TogoVar | ||||||
| REEP1_chr2_86208993_86342626 | 86226075 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01069.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0004g0100a0001c0001t0004g0143a0001c0001t0004g0144others(33): Show | 36 | 320 | 0.1125 | -9 | c.631 others(26): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| REEP1_chr2_86208993_86342626 | 86266655 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0026 | a0001c0002t0002g0135a0001c0002t0002g0136a0001c0002t0002g0137others(1): Show | 4 | 320 | 0.0125 | -9 | c.106 others(26): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| REEP2_chr5_138434057_138451965 | 138451603 | CCTCAATG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0070others(32): Show | 149 | 432 | 0.3449 | -9 | c.*58 others(20): Show |
REEP2 | ENSG00000132563.17 | transcript | ENST00000378339.7 | protein_coding | 4639 | chr5 | TogoVar | ||||||
| REEP5_chr5_112871385_112927227 | 112894114 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0024a0001c0001t0037others(1): Show | a0001c0001t0023g0014a0001c0001t0023g0017a0001c0001t0024g0015others(3): Show | 6 | 340 | 0.0177 | -9 | c.352 others(26): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
| RELL1_chr4_37605634_37691376 | 37605839 | GAAAGAAG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG03490.hp2 HG04228.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0004a0004c0008t0004 | a0001c0001t0004g0123a0001c0001t0004g0195a0004c0008t0004g0265 | 3 | 324 | 0.0093 | -9 | c.*74 others(20): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4794 | chr4 | TogoVar | ||||||
| RELL1_chr4_37605634_37691376 | 37612330 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0049others(2): Show | a0001c0001t0012g0034a0001c0001t0012g0135a0001c0001t0012g0141others(8): Show | 11 | 324 | 0.0340 | -9 | c.*10 others(20): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 7/7 | 19049 | chr4 | TogoVar | |||||
| RELL1_chr4_37605634_37691376 | 37633408 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0003g0094a0001c0001t0003g0106a0001c0001t0003g0108others(27): Show | 31 | 324 | 0.0957 | -9 | c.680 others(26): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103491886 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA18522.hp1 |
a0019a0026 | a0019c0069a0026c0043 | a0019c0069t0001a0026c0043t0004 | a0019c0069t0001g0125a0026c0043t0004g0161 | 2 | 184 | 0.0109 | -9 | c.944 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103677405 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00738.hp1 others(42): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(31): Show | a0001c0001t0001g0066a0001c0001t0001g0130a0001c0001t0002g0030others(42): Show | 45 | 184 | 0.2446 | -9 | c.128 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 11/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103796894 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18966.hp2 NA19009.hp2 others(2): Show |
a0001a0002 | a0001c0040a0001c0064a0002c0009others(1): Show | a0001c0040t0001a0001c0064t0002a0002c0009t0001others(1): Show | a0001c0040t0001g0061a0001c0064t0002g0008a0002c0009t0001g0056others(2): Show | 5 | 184 | 0.0272 | -9 | c.474 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103907315 | CTGAGGCA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp1 HG01192.hp1 others(33): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(28): Show | a0001c0001t0001g0073a0001c0001t0004g0160a0001c0002t0001g0083others(33): Show | 36 | 184 | 0.1957 | -9 | c.337 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103977310 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA18966.hp1 NA19009.hp1 others(2): Show |
a0001a0006a0023 | a0001c0002a0001c0003a0006c0013others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0003t0001others(2): Show | a0001c0002t0002g0005a0001c0002t0005g0183a0001c0003t0001g0106others(2): Show | 5 | 184 | 0.0272 | -9 | c.226 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RENBP_chrX_153930269_153949643 | 153938787 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01243.hp1 others(14): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0029others(10): Show | 17 | 297 | 0.0572 | -9 | c.107 others(28): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 9/10 | chrX | TogoVar | ||||||
| REPS2_chrX_16941658_17158272 | 16951550 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 166 | 0.0060 | -9 | c.273 others(26): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
| REPS2_chrX_16941658_17158272 | 16951551 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0025 | a0001c0001t0019g0101a0001c0001t0025g0024 | 2 | 166 | 0.0121 | -9 | c.273 others(26): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 16956284 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0091a0001c0001t0001g0146others(3): Show | 6 | 166 | 0.0361 | -9 | c.273 others(26): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17093191 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0025others(46): Show | 49 | 166 | 0.2952 | -9 | c.151 others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17140735 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01517.hp2 HG02109.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0003a0004c0004t0003 | a0001c0001t0002g0105a0001c0001t0003g0004a0001c0001t0003g0005others(6): Show | 9 | 166 | 0.0542 | -9 | c.191 others(28): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RERE_chr1_8347404_8822640 | 8386022 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp2 HG02970.hp2 others(2): Show |
a0001a0007 | a0001c0004a0001c0005a0007c0020 | a0001c0004t0010a0001c0004t0040a0001c0005t0009others(2): Show | a0001c0004t0010g0120a0001c0004t0040g0199a0001c0005t0009g0201others(2): Show | 5 | 204 | 0.0245 | -9 | c.128 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8401037 | CCATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(25): Show |
a0001 | a0001c0002a0001c0014a0001c0022others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0033others(4): Show | a0001c0002t0002g0148a0001c0002t0002g0149a0001c0002t0002g0150others(25): Show | 28 | 204 | 0.1373 | -9 | c.128 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8482681 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(10): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0028others(4): Show | a0001c0001t0003g0122a0001c0002t0005g0128a0001c0002t0005g0129others(10): Show | 13 | 204 | 0.0637 | -9 | c.110 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 10/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8605745 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01255.hp1 others(7): Show |
a0001a0009 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0005a0001c0002t0028a0001c0004t0010others(2): Show | a0001c0002t0005g0128a0001c0002t0005g0129a0001c0002t0005g0130others(7): Show | 10 | 204 | 0.0490 | -9 | c.522 others(26): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8732808 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(14): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0018others(7): Show | a0001c0001t0003g0122a0001c0002t0005g0128a0001c0002t0005g0129others(14): Show | 17 | 204 | 0.0833 | -9 | c.-14 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15166503 | GGATGGTG others(2): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0275a0001c0001t0004g0273a0001c0001t0004g0274others(1): Show | 4 | 300 | 0.0133 | -9 | c.62- others(26): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RESP18_chr2_219322407_219338177 | 219333113 | ATAATATT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0060a0002c0003t0001g0009a0002c0003t0001g0017others(9): Show | 25 | 420 | 0.0595 | -9 | c.17+ others(20): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56907401 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(64): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0023 | a0003c0003t0002g0001a0003c0003t0002g0006a0003c0003t0002g0007others(44): Show | 67 | 408 | 0.1642 | -9 | c.-82 others(18): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 498 | chr4 | TogoVar | ||||||
| RETN_chr19_7664049_7675455 | 7670432 | AGATGATG others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(383): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(48): Show | 386 | 458 | 0.8428 | -9 | c.*70 others(16): Show |
RETN | ENSG00000104918.8 | transcript | ENST00000221515.6 | protein_coding | 4/4 | 70 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| RETREG3_chr17_42574515_42614374 | 42597590 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(70): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0002g0220others(57): Show | 73 | 360 | 0.2028 | -9 | c.240 others(26): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597619 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(46): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0013a0001c0001t0002g0207others(42): Show | 49 | 360 | 0.1361 | -9 | c.240 others(26): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETSAT_chr2_85336955_85359528 | 85338977 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(22): Show |
a0001a0005a0012 | a0001c0001a0005c0007a0012c0018 | a0001c0001t0004a0005c0007t0004a0012c0018t0004 | a0001c0001t0004g0005a0001c0001t0004g0027a0001c0001t0004g0048others(6): Show | 25 | 384 | 0.0651 | -9 | c.*42 others(20): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 2977 | chr2 | TogoVar | ||||||
| RETSAT_chr2_85336955_85359528 | 85348630 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0010 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0005a0001c0009t0013others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0041a0001c0001t0001g0045others(6): Show | 29 | 384 | 0.0755 | -9 | c.997 others(24): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 5/10 | chr2 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111389727 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(15): Show |
a0003 | a0003c0005a0003c0008 | a0003c0005t0004a0003c0008t0004 | a0003c0005t0004g0267a0003c0005t0004g0268a0003c0005t0004g0271others(14): Show | 18 | 288 | 0.0625 | -9 | c.757 others(24): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 6/31 | chr6 | TogoVar | ||||||
| REXO1_chr19_1810248_1853483 | 1826684 | GGCAACAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(143): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0003c0003others(25): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(31): Show | a0001c0001t0001g0189a0002c0002t0001g0304a0003c0003t0001g0001others(124): Show | 146 | 380 | 0.3842 | -9 | c.191 others(26): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 2/15 | chr19 | TogoVar | ||||||
| REXO4_chr9_133401062_133423010 | 133401663 | CTGTGAGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0004a0002c0003t0005others(4): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0167others(16): Show | 29 | 428 | 0.0678 | -9 | c.*52 others(20): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 4398 | chr9 | TogoVar | ||||||
| REXO5_chr16_20801527_20854665 | 20820535 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02145.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101a0001c0001t0002g0113a0001c0001t0002g0121others(1): Show | 4 | 372 | 0.0108 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | chr16 | TogoVar | ||||||
| REXO5_chr16_20801527_20854665 | 20820536 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01069.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0034others(8): Show | 16 | 372 | 0.0430 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| REXO5_chr16_20801527_20854665 | 20820538 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0013a0001c0001t0002g0033a0001c0001t0002g0035others(5): Show | 9 | 372 | 0.0242 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RFC1_chr4_39282456_39371362 | 39313685 | TGGGAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01109.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0061a0001c0002t0002g0072a0001c0002t0002g0251others(32): Show | 35 | 276 | 0.1268 | -9 | c.120 others(26): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 10/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39351253 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01123.hp2 others(18): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0183others(18): Show | 21 | 276 | 0.0761 | -9 | c.132 others(22): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RFLNA_chr12_124290093_124321024 | 124312792 | TGCATATG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(372): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(364): Show | 375 | 388 | 0.9665 | -9 | c.317 others(24): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RFTN1_chr3_16310845_16518699 | 16357114 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0004a0002c0003t0006others(1): Show | a0001c0002t0001g0176a0002c0003t0004g0037a0002c0003t0004g0170others(3): Show | 6 | 268 | 0.0224 | -9 | c.114 others(26): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar |