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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2750): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242a0001c0001t0002g0056 | 2 | 312 | 0.0064 | 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 | a0001c0001t0001g0016a0001c0001t0001g0135a0001c0001t0001g0155others(17): Show | 20 | 312 | 0.0641 | 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 | a0001c0001t0002g0058 | 1 | 312 | 0.0032 | 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 | a0001c0002t0001g0092 | 1 | 312 | 0.0032 | 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 | a0001c0011t0001g0306 | 1 | 312 | 0.0032 | 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 | a0004c0005t0001g0051 | 1 | 418 | 0.0024 | 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 | a0001c0002t0001g0199 | 1 | 352 | 0.0028 | 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 | a0001c0001t0067 | a0001c0001t0067g0268 | 1 | 368 | 0.0027 | 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 | 80 | 0.0125 | 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 | a0001c0006t0001g0118 | 1 | 334 | 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 | a0001c0001t0002g0266a0002c0002t0002g0118 | 2 | 322 | 0.0062 | 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 | a0001c0001t0001g0032 | 1 | 378 | 0.0027 | 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 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0192 | 1 | 378 | 0.0027 | 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 | a0002c0005t0001g0362 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0072a0001c0001t0001g0182a0001c0004t0001g0058others(1): Show | 4 | 378 | 0.0106 | 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 | a0001c0004t0001g0160a0001c0004t0002g0330 | 2 | 378 | 0.0053 | 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 | a0001c0001t0001g0113 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0086 | 1 | 378 | 0.0027 | 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 | a0001c0007t0001g0282 | 1 | 312 | 0.0032 | 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 | a0001c0007t0004g0132 | 1 | 312 | 0.0032 | 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 | a0001c0001t0002g0071 | 1 | 312 | 0.0032 | 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 | a0001c0001t0001g0292a0001c0008t0001g0085a0001c0008t0001g0291others(1): Show | 4 | 312 | 0.0128 | 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 | a0001c0002t0001g0091 | 1 | 312 | 0.0032 | 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 | a0001c0002a0001c0036 | a0001c0002t0001a0001c0036t0001 | a0001c0002t0001g0128a0001c0036t0001g0098 | 2 | 312 | 0.0064 | 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 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0290a0002c0003t0002g0299 | 2 | 386 | 0.0052 | 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 | a0004c0005t0001g0069 | 1 | 418 | 0.0024 | 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 | a0002c0003t0001g0194 | 1 | 418 | 0.0024 | 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 | a0001c0001t0002g0205 | 1 | 320 | 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 | 66 | 0.0152 | 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 | 414 | 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 | 322 | 0.0031 | 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 | 322 | 0.0031 | 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 | 378 | 0.0027 | 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 | a0001c0001t0001g0036 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0087 | 1 | 378 | 0.0027 | 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 | a0003c0004t0113 | a0003c0004t0113g0087 | 1 | 250 | 0.0040 | 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 | a0001c0001t0001g0146 | 1 | 312 | 0.0032 | 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 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0042 | 1 | 312 | 0.0032 | 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 | a0001c0021t0002g0060 | 1 | 312 | 0.0032 | 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 | a0001c0001t0001g0008a0001c0013t0001g0308a0001c0020t0001g0218 | 3 | 312 | 0.0096 | 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 | a0001c0001t0001g0310a0001c0002t0001g0090a0001c0002t0001g0095others(4): Show | 7 | 312 | 0.0224 | 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 | a0001c0007t0004g0133 | 1 | 312 | 0.0032 | 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 | a0002c0003t0002g0287a0002c0003t0002g0298a0002c0011t0002g0318 | 3 | 386 | 0.0078 | 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 | a0002c0003t0002g0317 | 1 | 386 | 0.0026 | 2759 | c.138 others(2778): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(2752): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 144 | 0.0069 | 2759 | c.427 others(2778): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2753): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 279 | 0.0036 | 2760 | c.*27 others(2771): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2753): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19088.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0058a0003c0003t0002g0062 | 2 | 322 | 0.0062 | 2760 | c.989 others(2777): 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(2753): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0371 | 1 | 378 | 0.0027 | 2760 | c.372 others(2775): 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(2753): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0137 | 1 | 378 | 0.0027 | 2760 | c.372 others(2775): 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(2753): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 378 | 0.0027 | 2760 | c.372 others(2775): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |