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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(501): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0006 | 1 | 8 | 0.1250 | 508 | c.*69 others(519): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114199336 | C | CGTGACGG others(501): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 224 | 0.0045 | 508 | c.172 others(523): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108575520 | A | ATATATAC others(501): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 353 | 0.0028 | 508 | c.894 others(523): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575563 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03490.hp2 HG03704.hp2 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0002a0010c0012t0002 | a0001c0001t0002g0182 a0001c0001t0002g0183 a0010c0012t0002g0181 |
3 | 206 | 0.0146 | 508 | c.894 others(523): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CKM_chr19_45301413_45327875 | 45325126 | A | AAGGAGGC others(501): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 381 | 0.0026 | 508 | c.-23 others(519): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 2252 | chr19 | TogoVar | |||||||
CKM_chr19_45301413_45327875 | 45325126 | A | AAGGAGGC others(501): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0040 | 1 | 381 | 0.0026 | 508 | c.-23 others(519): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 2252 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133824 | T | TCTCCCTC others(501): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 213 | 0.0047 | 508 | c.-42 others(519): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3937 | chr19 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(501): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00741.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0006g0149 others(13): Show |
16 | 19 | 0.8421 | 508 | c.267 others(525): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(501): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031 | a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0031g0075 |
3 | 179 | 0.0168 | 508 | c.925 others(523): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(501): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 |
a0001 | a0001c0024a0001c0049 | a0001c0024t0001a0001c0049t0003 | a0001c0024t0001g0207 a0001c0049t0003g0183 |
2 | 178 | 0.0112 | 508 | c.925 others(523): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(501): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 508 | c.*19 others(519): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(501): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 118 | 0.0085 | 508 | c.*19 others(519): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1417680 | G | GGGGGGCA others(501): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | 508 | c.107 others(527): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAM167A_chr8_11416476_11471753 | 11455178 | C | CTGTGTGA others(501): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0007 a0001c0001t0019g0216 |
4 | 167 | 0.0240 | 508 | c.-39 others(529): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(501): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0045 | a0045c0107 | a0045c0107t0001 | a0045c0107t0001g0134 | 1 | 145 | 0.0069 | 508 | c.193 others(527): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152182738 | C | CACTATAT others(501): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 55 | 0.0182 | 508 | c.114 others(527): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1927268 | T | TTTTTATT others(501): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 163 | 0.0061 | 508 | c.771 others(525): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(501): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(30): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 others(27): Show |
33 | 120 | 0.2750 | 508 | c.146 others(525): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(501): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0074 others(23): Show |
27 | 114 | 0.2368 | 508 | c.146 others(525): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176592096 | A | ATGGTGGT others(501): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 387 | 0.0026 | 508 | c.*47 others(519): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3705 | chr5 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46643092 | C | CATCCATC others(501): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 311 | 0.0032 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643151 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 296 | 0.0034 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643151 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0189 | 1 | 296 | 0.0034 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 242 | 0.0041 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0055 | a0001c0008t0055g0067 | 1 | 242 | 0.0041 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 242 | 0.0041 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0003g0211 others(2): Show |
5 | 246 | 0.0203 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0069 | 1 | 242 | 0.0041 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0011 | a0002c0011t0053 | a0002c0011t0053g0060 | 1 | 242 | 0.0041 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 a0001c0001t0002g0300 |
2 | 123 | 0.0163 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(48): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0068 others(47): Show |
51 | 172 | 0.2965 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 122 | 0.0082 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0185 | 1 | 122 | 0.0082 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(501): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 122 | 0.0082 | 508 | c.283 others(525): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010783 | C | CCTTCATT others(501): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 368 | 0.0027 | 508 | c.134 others(525): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602255 | C | CCCTCCTC others(501): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0018 | a0001c0018t0025 | a0001c0018t0025g0059 | 1 | 392 | 0.0026 | 508 | c.633 others(525): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602266 | C | CCTCCTGC others(501): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0275 | 1 | 400 | 0.0025 | 508 | c.633 others(525): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(501): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 226 | 0.0044 | 508 | c.-21 others(519): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(501): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0231 a0002c0002t0002g0232 |
2 | 227 | 0.0088 | 508 | c.-21 others(519): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322899 | A | AATATATA others(501): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0010 | 1 | 317 | 0.0032 | 508 | c.-21 others(519): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2070 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(501): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0010 | 1 | 271 | 0.0037 | 508 | c.-21 others(519): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 105307514 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 134 | 0.0075 | 508 | c.697 others(527): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(501): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0145 | 1 | 233 | 0.0043 | 508 | c.127 others(527): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(501): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 11 | 0.0909 | 508 | c.10- others(525): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(501): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 11 | 0.0909 | 508 | c.10- others(525): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(501): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0251 | 1 | 100 | 0.0100 | 508 | c.623 others(525): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(501): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0237 | 1 | 100 | 0.0100 | 508 | c.623 others(525): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(501): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0267 | 1 | 100 | 0.0100 | 508 | c.623 others(525): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(501): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0042others(8): Show | a0001c0002t0002a0001c0006t0002a0001c0042t0001others(9): Show | a0001c0002t0002g0242 a0001c0002t0002g0263 a0001c0006t0002g0147 others(15): Show |
18 | 117 | 0.1538 | 508 | c.623 others(525): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134137670 | T | TAAGTCGT others(501): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 others(2): Show |
5 | 376 | 0.0133 | 508 | c.77- others(523): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |