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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRAMD4_chr22_46615386_46684785 | 46635778 | G | GCTGTATC others(177): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 328 | 0.0031 | 184 | c.163 others(201): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAP2_chr22_39896084_39978721 | 39956636 | C | CTTTTTTT others(177): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 316 | 0.0032 | 184 | c.170 others(199): Show |
GRAP2 | ENSG00000100351.17 | transcript | ENST00000344138.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998889 | C | CACATATA others(177): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0311 a0001c0001t0002g0312 |
2 | 418 | 0.0048 | 184 | c.167 others(199): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998889 | C | CACATATA others(177): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 418 | 0.0024 | 184 | c.167 others(199): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88687530 | A | ACACACAC others(177): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0020 | 1 | 184 | 0.0054 | 184 | c.912 others(203): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653187 | G | GCCCCCCT others(177): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0053 | a0053c0044 | a0053c0044t0001 | a0053c0044t0001g0227 | 1 | 290 | 0.0035 | 184 | c.427 others(201): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653208 | C | CCTCCCCC others(177): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0250 | 1 | 290 | 0.0035 | 184 | c.427 others(201): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653215 | C | CCTCCCCC others(177): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0233 | 1 | 290 | 0.0035 | 184 | c.427 others(201): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653270 | T | TCCCCCCT others(177): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 290 | 0.0035 | 184 | c.427 others(201): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02055.hp1 HG02258.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0019 | a0001c0001t0004g0064 a0001c0001t0007g0041 a0001c0002t0019g0059 |
3 | 156 | 0.0192 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0039 | a0001c0001t0023g0100 a0001c0001t0039g0129 |
2 | 156 | 0.0128 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 156 | 0.0064 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG02615.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0044 | a0001c0001t0009g0125 a0001c0001t0044g0008 |
2 | 156 | 0.0128 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0029 | 1 | 156 | 0.0064 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0046 | a0001c0001t0013g0012 a0001c0002t0046g0109 |
2 | 156 | 0.0128 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(177): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0137 | 1 | 156 | 0.0064 | 184 | c.221 others(203): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50948867 | G | GGGAGGGG others(177): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 380 | 0.0026 | 184 | c.-39 others(195): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3676 | chr12 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313658 | C | CCGCGCCT others(177): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18980.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0208 a0002c0002t0001g0175 |
2 | 330 | 0.0061 | 184 | c.124 others(199): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313788 | G | GCGCCGCC others(177): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 330 | 0.0030 | 184 | c.124 others(199): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322215 | C | CATGGAAT others(177): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 323 | 0.0031 | 184 | c.-28 others(195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2754 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322703 | T | TAATATAT others(177): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03225.hp1 |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0031 | a0003c0003t0009g0116 a0003c0003t0031g0109 |
2 | 323 | 0.0062 | 184 | c.-23 others(195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2266 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322703 | T | TAATATAT others(177): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 323 | 0.0031 | 184 | c.-23 others(195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2266 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322830 | A | ACGGAATG others(177): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 323 | 0.0031 | 184 | c.-22 others(195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2139 | chr21 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 159980224 | A | AAAGGAAG others(177): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121 | 1 | 310 | 0.0032 | 184 | c.149 others(203): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49200475 | A | AAAAAAGA others(177): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 196 | 0.0051 | 184 | c.-16 others(199): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49200499 | G | GAGAGGAG others(177): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0022 | 1 | 196 | 0.0051 | 184 | c.-16 others(199): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IL17RA_chr22_17080000_17120693 | 17094665 | C | CTATATAT others(177): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0018 | 1 | 416 | 0.0024 | 184 | c.139 others(201): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL1A_chr2_112768925_112789493 | 112776447 | T | TGACCCGC others(177): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00621.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(6): Show |
74 | 358 | 0.2067 | 184 | c.615 others(201): Show |
IL1A | ENSG00000115008.6 | transcript | ENST00000263339.4 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
IL1A_chr2_112768925_112789493 | 112776447 | T | TGACCCGC others(177): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 358 | 0.0028 | 184 | c.616 others(201): Show |
IL1A | ENSG00000115008.6 | transcript | ENST00000263339.4 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
IL1A_chr2_112768925_112789493 | 112776447 | T | TGACCCGC others(177): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 358 | 0.0028 | 184 | c.616 others(201): Show |
IL1A | ENSG00000115008.6 | transcript | ENST00000263339.4 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(177): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0002g0047 |
3 | 135 | 0.0222 | 184 | c.703 others(205): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(177): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0129 |
2 | 135 | 0.0148 | 184 | c.703 others(205): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(177): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0128 |
2 | 135 | 0.0148 | 184 | c.703 others(205): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(177): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0004 | a0001c0001t0001g0058 a0001c0001t0007g0133 a0001c0002t0004g0082 |
3 | 135 | 0.0222 | 184 | c.703 others(205): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361090 | T | TCTGTCTC others(177): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 115 | 0.0087 | 184 | c.759 others(201): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62598379 | G | GTTTTCTT others(177): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 330 | 0.0030 | 184 | c.267 others(203): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | chr5 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCCTCTC others(177): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0054 | a0001c0054t0023 | a0001c0054t0023g0136 | 1 | 142 | 0.0070 | 184 | c.163 others(201): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
IVD_chr15_40400795_40426308 | 40422766 | A | ATTTTTGT others(177): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 378 | 0.0027 | 184 | c.*45 others(195): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1459 | chr15 | TogoVar | |||||||
IVD_chr15_40400795_40426308 | 40422766 | A | ATTTTTGT others(177): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0006 | 1 | 378 | 0.0027 | 184 | c.*45 others(195): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1459 | chr15 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(177): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 206 | 0.0049 | 184 | c.115 others(203): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134467 | T | TATAATAT others(177): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18747.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0007g0296 |
3 | 338 | 0.0089 | 184 | c.117 others(205): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210718378 | G | GCATATAT others(177): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02897.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0008 a0001c0001t0005g0043 a0001c0001t0037g0160 |
3 | 164 | 0.0183 | 184 | c.211 others(205): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209700 | T | TATTATAT others(177): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0234 | 1 | 260 | 0.0039 | 184 | c.963 others(203): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK9_chr8_139612121_139708123 | 139687631 | T | TATGTGTA others(177): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 a0001c0001t0001g0297 |
2 | 322 | 0.0062 | 184 | c.283 others(203): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758877 | T | TATATATA others(177): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 232 | 0.0043 | 184 | c.-67 others(203): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN4_chr19_43761533_43785973 | 43780369 | T | TCCAGGAG others(177): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 440 | 0.0023 | 184 | c.159 others(199): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
KIAA0232_chr4_6777727_6889164 | 6880328 | T | TGTACTGT others(177): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(65): Show |
a0001a0004a0010others(1): Show | a0001c0001a0004c0005a0010c0018others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0020 others(65): Show |
68 | 362 | 0.1879 | 184 | c.400 others(201): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6880328 | T | TGTACTGT others(177): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0011 | a0011c0014 | a0011c0014t0043 | a0011c0014t0043g0132 | 1 | 362 | 0.0028 | 184 | c.400 others(201): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KIF13A_chr6_17758693_17992635 | 17793750 | C | CTAAAAAT others(177): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02895.hp2 others(2): Show |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0002 a0002c0010t0001g0003 a0002c0010t0001g0004 others(2): Show |
5 | 282 | 0.0177 | 184 | c.322 others(201): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 25/38 | chr6 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149528 | T | TCACATCC others(177): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0043 | a0001c0002t0002a0001c0003t0003a0001c0003t0008others(2): Show | a0001c0002t0002g0067 a0001c0003t0003g0003 a0001c0003t0003g0004 others(8): Show |
13 | 308 | 0.0422 | 184 | c.*67 others(195): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3937 | chr1 | TogoVar |