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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 370 | 0.0027 | 51 | c.859 others(68): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 370 | 0.0027 | 51 | c.859 others(68): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 370 | 0.0027 | 51 | c.859 others(68): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 370 | 0.0027 | 51 | c.859 others(68): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12876296 | A | AAAGAAGA others(44): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 370 | 0.0027 | 51 | c.69+ others(66): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128445204 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 53 | 0.0189 | 51 | c.101 others(70): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392594 | G | GTGGTGAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 NA18522.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0117a0003c0004t0001g0140 | 2 | 374 | 0.0054 | 51 | c.-46 others(62): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4605 | chr10 | TogoVar | ||||||
PXN_chr12_120205447_120270730 | 120265777 | C | CGCCCGCG others(44): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 NA18971.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0198a0001c0001t0001g0199 | 4 | 324 | 0.0124 | 51 | c.-14 others(60): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 48 | chr12 | TogoVar | ||||||
PXN_chr12_120205447_120270730 | 120265777 | C | CGCCCGCG others(44): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 324 | 0.0031 | 51 | c.-14 others(60): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 48 | chr12 | TogoVar | ||||||
PYHIN1_chr1_158926552_158982059 | 158968820 | T | TATCCTAA others(44): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02976.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023a0001c0001t0001g0161a0001c0001t0001g0262others(1): Show | 4 | 398 | 0.0101 | 51 | c.136 others(70): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98416685 | C | CCGGCCTC others(44): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 418 | 0.0024 | 51 | c.-15 others(62): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 1504 | chr10 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 442 | 0.0023 | 51 | c.120 others(68): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
QRFPR_chr4_121323642_121386018 | 121365500 | A | ATAATATA others(44): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0003a0001c0003t0005others(1): Show | a0001c0001t0016g0026a0001c0003t0003g0229a0001c0003t0003g0230others(11): Show | 14 | 384 | 0.0365 | 51 | c.340 others(70): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
RAB23_chr6_57181992_57227307 | 57212279 | G | GGTCTGGG others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 246 | 0.0041 | 51 | c.-65 others(68): Show |
RAB23 | ENSG00000112210.12 | transcript | ENST00000468148.6 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220226722 | G | GCCCAATT others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 378 | 0.0027 | 51 | c.180 others(68): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 2/34 | chr1 | TogoVar | ||||||
RAB3IL1_chr11_61892301_61922566 | 61913460 | A | ATGGTGGG others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 392 | 0.0026 | 51 | c.11+ others(66): Show |
RAB3IL1 | ENSG00000167994.13 | transcript | ENST00000394836.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(44): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 314 | 0.0032 | 51 | c.53+ others(64): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7B_chr1_205971740_206008395 | 205985778 | T | TCAGGCCC others(44): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 330 | 0.0030 | 51 | c.397 others(66): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205985782 | C | CACCAGGC others(44): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02572.hp2 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0274a0001c0001t0006g0068a0001c0001t0006g0081others(4): Show | 7 | 330 | 0.0212 | 51 | c.397 others(66): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0028 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0018others(4): Show | 7 | 272 | 0.0257 | 51 | c.234 others(72): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAD51B_chr14_67814779_68483093 | 68260318 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 84 | 0.0119 | 51 | c.757 others(70): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RADIL_chr7_4792055_4888716 | 4886300 | A | ATATATAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0011 | a0011c0043 | a0011c0043t0046 | a0011c0043t0046g0136 | 1 | 292 | 0.0034 | 51 | c.-27 others(62): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2585 | chr7 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(44): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0023 | a0023c0053 | a0023c0053t0061 | a0023c0053t0061g0192 | 1 | 292 | 0.0034 | 51 | c.-27 others(62): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | ||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 342 | 0.0029 | 51 | c.-57 others(60): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12641860 | A | AAATAGTC others(44): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 262 | 0.0038 | 51 | c.-27 others(70): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
RANBP6_chr9_6006025_6020624 | 6020105 | T | TCACAAAA others(44): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 414 | 0.0024 | 51 | c.-44 others(62): Show |
RANBP6 | ENSG00000137040.10 | transcript | ENST00000259569.6 | protein_coding | 4482 | chr9 | TogoVar | ||||||
RASGRF1_chr15_78954906_79095780 | 78989433 | C | CCAGCACT others(44): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0283 | 1 | 314 | 0.0032 | 51 | c.321 others(68): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 22/26 | chr15 | TogoVar | ||||||
RBBP6_chr16_24534566_24577863 | 24575786 | G | GGAGGGGG others(44): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0082 | 1 | 336 | 0.0030 | 51 | c.*33 others(62): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 2924 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6806836 | A | ATATAAAT others(44): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 68 | 0.0147 | 51 | c.-16 others(72): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX2_chr22_35733736_36033824 | 35735039 | G | GCATTCCA others(44): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 120 | 0.0083 | 51 | c.*91 others(62): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3696 | chr22 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735039 | G | GTATTCCA others(44): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 120 | 0.0083 | 51 | c.*91 others(62): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3696 | chr22 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735052 | G | GTGAAACT others(44): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG02258.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0065a0001c0001t0002g0019a0001c0001t0002g0025others(19): Show | 22 | 120 | 0.1833 | 51 | c.*91 others(62): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3683 | chr22 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735052 | G | GTGAAACT others(44): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0108a0001c0001t0006g0109a0001c0001t0021g0119 | 3 | 120 | 0.0250 | 51 | c.*91 others(62): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3683 | chr22 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110816281 | A | AACCATCT others(44): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02896.hp2 others(2): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0022 | a0001c0001t0001a0002c0002t0019a0010c0022t0001 | a0001c0001t0001g0118a0001c0001t0001g0209a0001c0001t0001g0210others(2): Show | 5 | 268 | 0.0187 | 51 | c.255 others(70): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM20_chr10_110639336_110844468 | 110816281 | A | AACCATCT others(44): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02572.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0181a0001c0001t0001g0250a0001c0001t0002g0203others(7): Show | 10 | 268 | 0.0373 | 51 | c.255 others(70): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM46_chr4_154776272_154833813 | 154807178 | A | AGTAGCAG others(44): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 374 | 0.0027 | 51 | c.140 others(70): Show |
RBM46 | ENSG00000151962.8 | transcript | ENST00000281722.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RBM5_chr3_50083919_50124021 | 50084990 | A | ACCCCCCC others(44): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 284 | 0.0035 | 51 | c.-40 others(62): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 3928 | chr3 | TogoVar | ||||||
RBM5_chr3_50083919_50124021 | 50112375 | C | CCAAAGCC others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 284 | 0.0035 | 51 | c.145 others(70): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 17/24 | chr3 | TogoVar | ||||||
RBP3_chr10_47343363_47362881 | 47362535 | A | AAGAAGTA others(44): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 418 | 0.0024 | 51 | c.*50 others(62): Show |
RBP3 | ENSG00000265203.2 | transcript | ENST00000584701.2 | protein_coding | 4655 | chr10 | TogoVar | ||||||
RBP7_chr1_9992228_10021021 | 9998408 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 376 | 0.0027 | 51 | c.73+ others(66): Show |
RBP7 | ENSG00000162444.12 | transcript | ENST00000294435.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAATAT others(44): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 | 1 | 390 | 0.0026 | 51 | c.286 others(68): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487824 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00621.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0042others(55): Show | 71 | 406 | 0.1749 | 51 | c.657 others(68): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487867 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082a0001c0001t0003g0083 | 2 | 406 | 0.0049 | 51 | c.657 others(68): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653984 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 292 | 0.0034 | 51 | c.362 others(70): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 376 | 0.0027 | 51 | c.-65 others(68): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8501615 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0040a0001c0009t0041 | a0001c0004t0040g0199a0001c0009t0041g0198 | 2 | 204 | 0.0098 | 51 | c.880 others(68): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8501881 | C | CAGGTGGG others(44): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 204 | 0.0049 | 51 | c.880 others(68): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(44): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 | 1 | 408 | 0.0025 | 51 | c.-28 others(62): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296092 | C | CTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01934.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0359a0001c0001t0001g0360a0001c0001t0001g0362others(1): Show | 4 | 388 | 0.0103 | 51 | c.207 others(66): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296096 | C | CTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343a0001c0001t0001g0344a0001c0001t0001g0345 | 3 | 388 | 0.0077 | 51 | c.207 others(66): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |