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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KMT2A_chr11_118431492_118531832 | 118441267 | T | TCTGTTTG others(2278): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0159 | 1 | 198 | 0.0051 | 2285 | c.432 others(2302): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120441 | G | GATGGAAA others(2278): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0029 a0001c0002t0017g0077 a0001c0002t0017g0078 others(2): Show |
5 | 199 | 0.0251 | 2285 | c.353 others(2300): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2278): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0019 | a0019c0114 | a0019c0114t0001 | a0019c0114t0001g0080 | 1 | 8 | 0.1250 | 2285 | c.723 others(2302): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02738.hp1 |
a0003 | a0003c0009a0003c0032 | a0003c0009t0001a0003c0032t0001 | a0003c0009t0001g0004 a0003c0032t0001g0007 |
2 | 5 | 0.4000 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 4 | 0.2500 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 4 | 0.2500 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0014 | a0014c0062 | a0014c0062t0008 | a0014c0062t0008g0214 | 1 | 4 | 0.2500 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(15): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(3): Show | a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 others(15): Show |
18 | 21 | 0.8571 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
MEIOSIN_chr19_45728439_45769541 | 45732413 | T | TAAGACGT others(2278): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 358 | 0.0028 | 2285 | c.-12 others(2296): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 1025 | chr19 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2278): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 89 | 0.0112 | 2285 | c.-48 others(2296): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2278): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 89 | 0.0112 | 2285 | c.-48 others(2296): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2279): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0029 | 1 | 88 | 0.0114 | 2286 | c.*92 others(2297): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2279): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 a0001c0001t0004g0230 |
2 | 83 | 0.0241 | 2286 | c.439 others(2303): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0268 | 1 | 4 | 0.2500 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 4 | 0.2500 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 4 | 0.2500 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0032 | 1 | 4 | 0.2500 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0009 | 1 | 4 | 0.2500 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2279): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0089 | 1 | 4 | 0.2500 | 2286 | c.522 others(2303): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2279): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0331 | 1 | 259 | 0.0039 | 2286 | c.101 others(2305): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2279): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 89 | 0.0112 | 2286 | c.-48 others(2297): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2280): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 436 | 0.0023 | 2287 | c.193 others(2304): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2280): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0330 | 1 | 88 | 0.0114 | 2287 | c.*92 others(2298): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2280): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 158 | 0.0063 | 2287 | c.126 others(2304): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0198 a0001c0001t0008g0129 |
2 | 76 | 0.0263 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 75 | 0.0133 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0208 | 1 | 75 | 0.0133 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128 | 1 | 75 | 0.0133 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 75 | 0.0133 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2280): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0011 | a0011c0047 | a0011c0047t0010 | a0011c0047t0010g0281 | 1 | 4 | 0.2500 | 2287 | c.515 others(2304): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2280): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 65 | 0.0154 | 2287 | c.4-1 others(2300): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2280): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 65 | 0.0154 | 2287 | c.4-1 others(2300): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2280): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 65 | 0.0154 | 2287 | c.4-1 others(2300): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2280): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 65 | 0.0154 | 2287 | c.4-1 others(2300): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(2280): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0071 | 1 | 330 | 0.0030 | 2287 | c.255 others(2306): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2280): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0015 | a0015c0106 | a0015c0106t0011 | a0015c0106t0011g0205 | 1 | 2 | 0.5000 | 2287 | c.801 others(2304): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2280): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 167 | 0.0060 | 2287 | c.126 others(2306): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2280): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 143 | 0.0070 | 2287 | c.58- others(2304): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2280): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 89 | 0.0112 | 2287 | c.-48 others(2298): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2281): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 3 | 0.3333 | 2288 | c.655 others(2307): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2281): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 158 | 0.0063 | 2288 | c.126 others(2305): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2281): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0046 | 1 | 82 | 0.0122 | 2288 | c.439 others(2305): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2281): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0002 | 1 | 4 | 0.2500 | 2288 | c.515 others(2305): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2281): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 4 | 0.2500 | 2288 | c.515 others(2305): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2281): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 | 1 | 4 | 0.2500 | 2288 | c.515 others(2305): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130393221 | T | TGTGTCCG others(2281): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0014 | a0014c0050 | a0014c0050t0001 | a0014c0050t0001g0104 | 1 | 161 | 0.0062 | 2288 | c.*41 others(2299): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2911 | chr12 | TogoVar | |||||||
SLC2A13_chr12_39750025_40111081 | 39768723 | T | TAAAGATC others(2281): Show |
intron_variant | MODIFIER | NA18980.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0084 |
2 | 212 | 0.0094 | 2288 | c.144 others(2307): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 7/9 | chr12 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2281): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 89 | 0.0112 | 2288 | c.-48 others(2299): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2282): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 233 | 0.0043 | 2289 | c.366 others(2306): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2282): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01515.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033 | a0001c0001t0005g0068 a0001c0001t0005g0233 a0001c0001t0005g0241 others(2): Show |
5 | 92 | 0.0543 | 2289 | c.*92 others(2300): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar |