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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBPMS_chr8_30379541_30577256 | 30419450 | A | ATTGTGTG others(14): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 304 | 0.0033 | 21 | c.66+ others(38): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30518687 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232a0001c0001t0001g0235 | 2 | 304 | 0.0066 | 21 | c.397 others(40): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBX1_chr22_40946378_40978309 | 40961081 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0229 | 3 | 320 | 0.0094 | 21 | c.158 others(38): Show |
RBX1 | ENSG00000100387.9 | transcript | ENST00000216225.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 310 | 0.0032 | 21 | c.*88 others(32): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173950420 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0031 | a0001c0001t0025g0066a0001c0001t0025g0209a0001c0001t0031g0075 | 3 | 310 | 0.0097 | 21 | c.252 others(40): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
RCBTB2_chr13_48483963_48538080 | 48492665 | G | GACTTCTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG03041.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0013a0001c0004t0004g0235 | 3 | 320 | 0.0094 | 21 | c.151 others(40): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28518100 | T | TGGCCAAG others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033a0001c0002t0003g0060 | 2 | 294 | 0.0068 | 21 | c.-10 others(38): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275 | 1 | 294 | 0.0034 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01433.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0037a0001c0003t0002g0263 | 2 | 294 | 0.0068 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0007a0001c0002t0005g0018 | 2 | 294 | 0.0068 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAT others(14): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 HG03688.hp1 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0205a0001c0002t0001g0042a0001c0002t0003g0034 | 3 | 294 | 0.0102 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 294 | 0.0034 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0068a0001c0002t0003g0033 | 2 | 294 | 0.0068 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0329 | 1 | 390 | 0.0026 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0352 | 1 | 390 | 0.0026 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0355 | 1 | 390 | 0.0026 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAT others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0034 | a0001c0001t0009g0012a0001c0001t0009g0258a0001c0001t0034g0214 | 4 | 390 | 0.0103 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAATAT others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0256a0001c0001t0009g0257 | 2 | 390 | 0.0051 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653983 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 292 | 0.0034 | 21 | c.362 others(40): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RCOR1_chr14_102587649_102735561 | 102653986 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 292 | 0.0034 | 21 | c.362 others(40): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167627369 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 350 | 0.0029 | 21 | c.-30 others(32): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 2862 | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 350 | 0.0029 | 21 | c.6+3 others(32): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RDH13_chr19_55039316_55068148 | 55063061 | A | AGGCGTCA others(14): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0033 | 1 | 377 | 0.0027 | 21 | c.-30 others(28): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1/7 | 30 | chr19 | TogoVar | |||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0342a0001c0001t0009g0307 | 2 | 376 | 0.0053 | 21 | c.-65 others(38): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
REC114_chr15_73438164_73565013 | 73559971 | C | CCTAAAAT others(14): Show |
3_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 188 | 0.0053 | 21 | c.*56 others(28): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 6/6 | 77 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
REEP1_chr2_86208993_86342626 | 86288032 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0021a0001c0001t0036others(2): Show | a0001c0001t0003g0072a0001c0001t0003g0073a0001c0001t0003g0074others(6): Show | 9 | 320 | 0.0281 | 21 | c.33- others(36): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63533710 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01123.hp1 others(23): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163others(23): Show | 26 | 284 | 0.0916 | 21 | c.32+ others(38): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
REEP5_chr5_112871385_112927227 | 112893094 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0322 | 1 | 340 | 0.0029 | 21 | c.352 others(38): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 382 | 0.0026 | 21 | c.164 others(36): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RELCH_chr18_62182255_62315249 | 62255286 | A | AAGTGGAA others(14): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 340 | 0.0029 | 21 | c.182 others(37): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RELCH_chr18_62182255_62315249 | 62315054 | G | GATACTTC others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(142): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0140a0001c0001t0001g0223a0001c0001t0001g0224others(140): Show | 145 | 340 | 0.4265 | 21 | c.*95 others(32): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 4806 | chr18 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37605783 | G | GAGAGAGA others(14): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0061 | 1 | 324 | 0.0031 | 21 | c.*75 others(32): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4850 | chr4 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103518505 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0019 | 1 | 184 | 0.0054 | 21 | c.786 others(38): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 49/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103708464 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0120 | 1 | 184 | 0.0054 | 21 | c.806 others(38): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 8/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103816530 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0067 | a0001c0067t0017 | a0001c0067t0017g0024 | 1 | 184 | 0.0054 | 21 | c.473 others(40): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103977310 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 HG06807.hp1 NA19043.hp2 |
a0001a0009a0027 | a0001c0003a0009c0055a0027c0053 | a0001c0003t0002a0009c0055t0002a0027c0053t0002 | a0001c0003t0002g0017a0009c0055t0002g0020a0027c0053t0002g0021 | 3 | 184 | 0.0163 | 21 | c.226 others(40): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103989356 | T | TGCCGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG02083.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0005a0001c0003t0005a0001c0004t0005others(2): Show | a0001c0002t0005g0183a0001c0003t0005g0180a0001c0004t0005g0179others(2): Show | 5 | 184 | 0.0272 | 21 | c.-21 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/65 | 1 | chr7 | TogoVar | |||||
REM1_chr20_31470288_31489895 | 31470357 | C | CGGGGTGG others(14): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 344 | 0.0029 | 21 | c.-52 others(32): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4930 | chr20 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31472439 | A | AGGGAGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 344 | 0.0029 | 21 | c.-31 others(32): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 2848 | chr20 | TogoVar | ||||||
REM2_chr14_22878222_22892678 | 22888998 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 392 | 0.0026 | 21 | c.*20 others(32): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1321 | chr14 | TogoVar | ||||||
REPS1_chr6_138898493_138993253 | 138907313 | A | AAGTGTGT others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 390 | 0.0026 | 21 | c.232 others(38): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
REPS1_chr6_138898493_138993253 | 138955457 | A | AAGTGTGT others(14): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 NA19084.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0110a0001c0001t0001g0274a0009c0008t0001g0138 | 3 | 390 | 0.0077 | 21 | c.154 others(38): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
REPS1_chr6_138898493_138993253 | 138969269 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0115a0001c0001t0001g0151others(1): Show | 4 | 390 | 0.0103 | 21 | c.153 others(40): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16946753 | T | TGGCGGCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | 166 | 0.0241 | 21 | c.-10 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
REPS2_chrX_16941658_17158272 | 17093200 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0081a0001c0001t0001g0087others(6): Show | 9 | 166 | 0.0542 | 21 | c.151 others(42): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8512014 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 NA19070.hp2 |
a0001 | a0001c0003a0001c0007a0001c0009 | a0001c0003t0004a0001c0007t0004a0001c0009t0004 | a0001c0003t0004g0035a0001c0007t0004g0047a0001c0009t0004g0020 | 3 | 204 | 0.0147 | 21 | c.831 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8516227 | G | GAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20905.hp2 |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0003a0008c0017t0003 | a0001c0001t0003g0095a0008c0017t0003g0101 | 2 | 204 | 0.0098 | 21 | c.831 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8545982 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0127 | 1 | 204 | 0.0049 | 21 | c.726 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0063others(5): Show | 8 | 204 | 0.0392 | 21 | c.523 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8604442 | A | AGGCAGAG others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02602.hp2 others(2): Show |
a0001a0002a0004 | a0001c0004a0002c0006a0002c0026others(1): Show | a0001c0004t0005a0002c0006t0003a0002c0026t0008others(1): Show | a0001c0004t0005g0123a0002c0006t0003g0139a0002c0026t0008g0140others(2): Show | 5 | 204 | 0.0245 | 21 | c.522 others(40): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar |