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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCGF3_chr4_700832_775089 | 706581 | C | CGGGAGGT others(184): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(19): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(2): Show | a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0003t0005g0126 others(19): Show |
22 | 363 | 0.0606 | 191 | c.-19 others(208): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59313532 | T | TCTAACCA others(184): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 74 | 0.0135 | 191 | c.456 others(210): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 510772 | G | GGGAGGGG others(184): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0109 | 1 | 190 | 0.0053 | 191 | c.453 others(204): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285909 | C | CCCAACCC others(184): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0018 | 1 | 417 | 0.0024 | 191 | c.111 others(208): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(184): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0239 | 1 | 202 | 0.0050 | 191 | c.20- others(206): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(184): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 305 | 0.0033 | 191 | c.143 others(206): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741315 | G | GGGGGGCT others(184): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 304 | 0.0033 | 191 | c.143 others(206): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741370 | G | GGCGGGGG others(184): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 127 | 0.0079 | 191 | c.143 others(206): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741395 | G | GGGGGGCT others(184): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0216 | 1 | 282 | 0.0035 | 191 | c.143 others(206): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17193868 | A | AGGAGGGG others(184): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 191 | 0.0052 | 191 | c.-66 others(210): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401882 | C | CGCTCACC others(184): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0021 | 1 | 196 | 0.0051 | 191 | c.173 others(210): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402254 | C | CACTCACA others(184): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01952.hp1 HG01975.hp2 others(9): Show |
a0001a0010 | a0001c0002a0001c0003a0010c0017 | a0001c0002t0001a0001c0003t0001a0010c0017t0001 | a0001c0002t0001g0146 a0001c0003t0001g0095 a0001c0003t0001g0098 others(9): Show |
12 | 178 | 0.0674 | 191 | c.173 others(208): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PLA2G4A_chr1_186823949_186993981 | 186857067 | C | CTGGGGAA others(184): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0257 |
2 | 57 | 0.0351 | 191 | c.33+ others(206): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 2/17 | chr1 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 297210 | A | ACATTATT others(184): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0076 | 1 | 168 | 0.0060 | 191 | c.734 others(208): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 140921 | C | CCCCACCC others(184): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0023 | a0011c0023t0054 | a0011c0023t0054g0186 | 1 | 194 | 0.0052 | 191 | c.147 others(208): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998672 | A | AAATATAT others(184): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 4 | 0.2500 | 191 | c.-49 others(202): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4557 | chrX | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998672 | A | AAATATAT others(184): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 4 | 0.2500 | 191 | c.-49 others(202): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4557 | chrX | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3287524 | C | CAGGATCG others(184): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0168 a0001c0002t0001g0121 |
2 | 208 | 0.0096 | 191 | c.438 others(210): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3287558 | T | TGCCACGC others(184): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0193 | 1 | 208 | 0.0048 | 191 | c.438 others(210): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3287568 | G | GCATCCAG others(184): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0009a0002c0003t0051 | a0001c0012t0009g0113 a0002c0003t0051g0079 |
2 | 203 | 0.0099 | 191 | c.438 others(210): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161350871 | T | TTTTTATA others(184): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0013 | 1 | 17 | 0.0588 | 191 | c.128 others(208): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73189448 | T | TAAAAATA others(184): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0300 | 1 | 358 | 0.0028 | 191 | c.548 others(208): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79495580 | T | CGGGAAGG others(184): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0151 | 1 | 101 | 0.0099 | 191 | c.-31 others(212): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124320628 | A | AGGTGGGA others(184): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 24 | 0.0417 | 191 | c.*61 others(202): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 4605 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124320650 | G | GGGGGTAG others(184): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 386 | 0.0026 | 191 | c.*61 others(202): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 4627 | chr12 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341470 | C | CGGGGGGA others(184): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0229 | 1 | 304 | 0.0033 | 191 | c.188 others(210): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341637 | A | AGGGGAGG others(184): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 300 | 0.0033 | 191 | c.188 others(210): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIPK4_chr21_41734373_41772052 | 41736022 | A | ACTTCTTC others(184): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 255 | 0.0039 | 191 | c.*48 others(202): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 3350 | chr21 | TogoVar | |||||||
RIPK4_chr21_41734373_41772052 | 41736056 | C | CTTCTTCT others(184): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0089 | 1 | 228 | 0.0044 | 191 | c.*47 others(202): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 3316 | chr21 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505261 | G | GCTCCCTC others(184): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0128 | 1 | 29 | 0.0345 | 191 | c.-76 others(200): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 275 | chr14 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505328 | C | CTCCCTCT others(184): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0017 | 1 | 387 | 0.0026 | 191 | c.-69 others(200): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 208 | chr14 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242795 | C | TTACCTTC others(184): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 107 | 0.0093 | 191 | c.613 others(208): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761901 | A | ATCCTTCC others(184): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01981.hp2 |
a0003 | a0003c0003 | a0003c0003t0096a0003c0003t0098 | a0003c0003t0096g0224 a0003c0003t0098g0184 |
2 | 268 | 0.0075 | 191 | c.-15 others(202): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1102 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665373 | C | CTTCCTTT others(184): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0018 | a0001c0018t0009 | a0001c0018t0009g0065 | 1 | 194 | 0.0052 | 191 | c.348 others(210): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1166138 | C | CACCGGAT others(184): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 202 | 0.0050 | 191 | c.-12 others(210): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159680705 | T | TATAATAT others(184): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 77 | 0.0130 | 191 | c.64- others(208): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159680705 | T | TATAATAT others(184): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02027.hp1 HG02965.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 others(6): Show |
9 | 85 | 0.1059 | 191 | c.64- others(208): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159680705 | T | TATAATAT others(184): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 77 | 0.0130 | 191 | c.64- others(208): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(184): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 164 | 0.0061 | 191 | c.464 others(204): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGTGAGGG others(184): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0157 a0005c0011t0001g0158 |
2 | 165 | 0.0121 | 191 | c.464 others(204): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288383 | T | TCCCCCGT others(184): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0102 | 1 | 270 | 0.0037 | 191 | c.166 others(208): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTATCC others(184): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0228 | 1 | 122 | 0.0082 | 191 | c.89- others(204): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339864 | A | ATTCTATC others(184): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03453.hp1 |
a0001a0002 | a0001c0021a0002c0009 | a0001c0021t0004a0002c0009t0024 | a0001c0021t0004g0073 a0002c0009t0024g0062 |
2 | 121 | 0.0165 | 191 | c.89- others(204): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261831 | C | CCTCCCGT others(184): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 260 | 0.0038 | 191 | c.*54 others(202): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4750 | chr5 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85666391 | C | CTGTGTGT others(184): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0076 | 1 | 402 | 0.0025 | 191 | c.393 others(206): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401882 | C | CGCTCACC others(184): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 220 | 0.0045 | 191 | c.*40 others(202): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3833 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401975 | C | CGCTCACC others(184): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 203 | 0.0049 | 191 | c.*39 others(202): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3740 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402091 | C | CCCCGCCC others(184): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 191 | c.*38 others(202): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3624 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402254 | C | CACTCACA others(184): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0072 | 1 | 171 | 0.0058 | 191 | c.*36 others(202): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3461 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402254 | C | CACTCACA others(184): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01975.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(8): Show |
15 | 185 | 0.0811 | 191 | c.*36 others(202): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3461 | chr11 | TogoVar |