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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 18 | 0.0556 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03704.hp1 NA18964.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0067 others(5): Show |
8 | 25 | 0.3200 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 18 | 0.0556 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 18 | 0.0556 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2750): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 18 | 0.0556 | 2757 | c.372 others(2772): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9488788 | A | AGAAATCT others(2750): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0180 | 1 | 196 | 0.0051 | 2757 | c.-20 others(2778): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243 a0001c0001t0002g0057 |
2 | 235 | 0.0085 | 2757 | c.796 others(2772): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01081.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0136 a0001c0001t0001g0156 others(17): Show |
20 | 253 | 0.0791 | 2757 | c.796 others(2772): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 234 | 0.0043 | 2757 | c.796 others(2772): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 234 | 0.0043 | 2757 | c.796 others(2772): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0305 | 1 | 234 | 0.0043 | 2757 | c.796 others(2772): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2751): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0053 | 1 | 371 | 0.0027 | 2758 | c.96+ others(2773): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CCDC47_chr17_63740255_63778597 | 63768396 | T | TAAAAATT others(2751): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 346 | 0.0029 | 2758 | c.-19 others(2775): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120188 | A | AGGAAACA others(2751): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0268 | 1 | 135 | 0.0074 | 2758 | c.353 others(2775): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2751): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 53 | 0.0189 | 2758 | c.125 others(2775): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
RHEX_chr1_206048173_206107449 | 206087487 | T | TCTCTTCT others(2751): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0079 | 1 | 332 | 0.0030 | 2758 | c.-96 others(2777): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2751): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0266 a0002c0002t0002g0119 |
2 | 255 | 0.0078 | 2758 | c.989 others(2775): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 18 | 0.0556 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0214 | 1 | 18 | 0.0556 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0367 | 1 | 18 | 0.0556 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0087 a0001c0001t0001g0219 a0001c0004t0001g0053 others(1): Show |
4 | 21 | 0.1905 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0020 a0001c0004t0002g0330 |
2 | 19 | 0.1053 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 18 | 0.0556 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2751): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 18 | 0.0556 | 2758 | c.372 others(2773): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0283 | 1 | 234 | 0.0043 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0133 | 1 | 234 | 0.0043 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 234 | 0.0043 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02258.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0291 a0001c0008t0001g0086 a0001c0008t0001g0290 others(1): Show |
4 | 237 | 0.0169 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 234 | 0.0043 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2751): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18992.hp1 |
a0001 | a0001c0002a0001c0035 | a0001c0002t0001a0001c0035t0001 | a0001c0002t0001g0129 a0001c0035t0001g0099 |
2 | 235 | 0.0085 | 2758 | c.796 others(2773): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2751): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0294 | 1 | 325 | 0.0031 | 2758 | c.138 others(2777): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2752): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0071 | 1 | 371 | 0.0027 | 2759 | c.96+ others(2774): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2752): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0188 | 1 | 288 | 0.0035 | 2759 | c.96+ others(2774): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARK2N_chr18_46169034_46271992 | 46227285 | G | GATGTCTC others(2752): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 318 | 0.0031 | 2759 | c.715 others(2778): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2752): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 47 | 0.0213 | 2759 | c.56- others(2772): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NR2F6_chr19_17226883_17250919 | 17247210 | T | TAAAAAGA others(2752): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 412 | 0.0024 | 2759 | c.-19 others(2770): Show |
NR2F6 | ENSG00000160113.6 | transcript | ENST00000291442.4 | protein_coding | 1292 | chr19 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2752): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 254 | 0.0039 | 2759 | c.989 others(2776): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2752): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0310 | 1 | 254 | 0.0039 | 2759 | c.989 others(2776): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2752): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 18 | 0.0556 | 2759 | c.372 others(2774): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2752): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 18 | 0.0556 | 2759 | c.372 others(2774): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2752): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 18 | 0.0556 | 2759 | c.372 others(2774): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2752): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0003 | a0003c0004 | a0003c0004t0071 | a0003c0004t0071g0087 | 1 | 211 | 0.0047 | 2759 | c.-22 others(2778): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 234 | 0.0043 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0043 | 1 | 234 | 0.0043 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0061 | 1 | 234 | 0.0043 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0013a0001c0020 | a0001c0001t0001a0001c0013t0001a0001c0020t0001 | a0001c0001t0001g0009 a0001c0013t0001g0307 a0001c0020t0001g0219 |
3 | 236 | 0.0127 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18906.hp1 NA18954.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0309 a0001c0002t0001g0091 a0001c0002t0001g0096 others(4): Show |
7 | 240 | 0.0292 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2752): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0134 | 1 | 234 | 0.0043 | 2759 | c.796 others(2774): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2752): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG03491.hp1 |
a0002 | a0002c0003a0002c0011 | a0002c0003t0002a0002c0011t0002 | a0002c0003t0002g0282 a0002c0003t0002g0293 a0002c0011t0002g0313 |
3 | 327 | 0.0092 | 2759 | c.138 others(2778): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2752): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0312 | 1 | 325 | 0.0031 | 2759 | c.138 others(2778): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |