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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(427): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0005a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0001t0005g0246 a0001c0003t0002g0168 a0001c0003t0003g0166 others(2): Show |
5 | 250 | 0.0200 | 434 | c.225 others(451): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(427): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01952.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 5 | 364 | 0.0137 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(427): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03017.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
3 | 364 | 0.0082 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(427): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(427): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(427): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 NA18943.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 364 | 0.0082 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(427): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 364 | 0.0028 | 434 | c.*18 others(445): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75906482 | T | TATACAAT others(427): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 332 | 0.0030 | 434 | c.262 others(453): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250678 | A | AGGAAGAA others(427): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 294 | 0.0034 | 434 | c.677 others(449): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(427): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0043 | 1 | 364 | 0.0028 | 434 | c.394 others(449): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588981 | A | ATATATAT others(427): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0010 | a0010c0010 | a0010c0010t0015 | a0010c0010t0015g0072 | 1 | 364 | 0.0028 | 434 | c.394 others(449): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02818.hp1 others(5): Show |
a0001a0002a0004others(5): Show | a0001c0004a0002c0094a0004c0027others(5): Show | a0001c0004t0041a0002c0094t0015a0004c0027t0043others(5): Show | a0001c0004t0041g0312 a0002c0094t0015g0310 a0004c0027t0043g0313 others(5): Show |
8 | 330 | 0.0242 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0028 | a0002c0028t0016 | a0002c0028t0016g0317 | 1 | 330 | 0.0030 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0003others(90): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(169): Show | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0082 others(303): Show |
306 | 330 | 0.9273 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01943.hp1 others(4): Show |
a0001 | a0001c0002a0001c0004a0001c0011 | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 others(4): Show |
7 | 330 | 0.0212 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0033 | a0033c0049 | a0033c0049t0015 | a0033c0049t0015g0046 | 1 | 330 | 0.0030 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp1 NA20300.hp2 |
a0001a0038 | a0001c0005a0001c0064a0038c0071 | a0001c0005t0005a0001c0064t0004a0038c0071t0033 | a0001c0005t0005g0193 a0001c0064t0004g0195 a0038c0071t0033g0194 |
3 | 330 | 0.0091 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796272 | T | TGGGCCTG others(427): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0010 | a0010c0038 | a0010c0038t0002 | a0010c0038t0002g0302 | 1 | 330 | 0.0030 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17796273 | G | GGGCCTGC others(427): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0166 | 1 | 330 | 0.0030 | 434 | c.-15 others(453): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79494277 | A | ACGGCCGG others(427): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174 | 1 | 322 | 0.0031 | 434 | c.278 others(453): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTC others(427): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 434 | c.*26 others(445): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993472 | C | CCCCCTCT others(427): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0011 | 1 | 350 | 0.0029 | 434 | c.*55 others(445): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4844 | chr19 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397652 | C | CGGGGTGG others(427): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 356 | 0.0028 | 434 | c.91+ others(447): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(427): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0187 | 1 | 344 | 0.0029 | 434 | c.154 others(451): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(427): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022a0001c0001t0024 | a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0022g0181 others(1): Show |
4 | 344 | 0.0116 | 434 | c.154 others(451): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(427): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 326 | 0.0031 | 434 | c.433 others(451): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
ODF3_chr11_191761_205258 | 194639 | G | GGGGCCAC others(427): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 434 | c.-24 others(445): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 2121 | chr11 | TogoVar | |||||||
ODF3_chr11_191761_205258 | 194833 | A | ATGGGGAC others(427): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 434 | c.-22 others(445): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 1927 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64094273 | T | TGGGGGGC others(427): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 66 | 0.0303 | 434 | c.233 others(451): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648652 | A | AATATATT others(427): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0026 | a0004c0026t0004 | a0004c0026t0004g0041 | 1 | 54 | 0.0185 | 434 | c.121 others(453): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981746 | A | ATGGTGAT others(427): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 380 | 0.0026 | 434 | c.255 others(453): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0003 |
2 | 400 | 0.0050 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 400 | 0.0025 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 400 | 0.0025 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 400 | 0.0025 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(427): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
2 | 400 | 0.0050 | 434 | c.*70 others(445): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571084 | T | TGTGTGTC others(427): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0021 | a0002c0001t0001g0090 a0002c0001t0021g0089 |
2 | 408 | 0.0049 | 434 | c.-10 others(449): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401197 | C | CGCCCCGC others(427): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 216 | 0.0046 | 434 | c.173 others(451): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(427): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0015 | a0015c0019 | a0015c0019t0062 | a0015c0019t0062g0191 | 1 | 210 | 0.0048 | 434 | c.45+ others(445): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976708 | A | ACCCCCAC others(427): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 434 | c.*21 others(445): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 844 | chr1 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38895766 | A | ACTTCCTT others(427): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 244 | 0.0041 | 434 | c.467 others(447): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCGGGAG others(427): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 295 | 0.0034 | 434 | c.126 others(453): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAPGEF1_chr9_131571775_131745076 | 131587221 | A | AACACACA others(427): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0048 | 1 | 368 | 0.0027 | 434 | c.323 others(451): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114133812 | A | AGTCCCCC others(427): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0063 | 1 | 67 | 0.0149 | 434 | c.-13 others(445): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1190 | chr13 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(427): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019 | a0001c0001t0011g0135 a0001c0001t0019g0035 |
2 | 304 | 0.0066 | 434 | c.66+ others(449): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(427): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 318 | 0.0031 | 434 | c.*36 others(445): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(427): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 318 | 0.0031 | 434 | c.*36 others(445): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(427): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 318 | 0.0031 | 434 | c.*36 others(445): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar |